| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| 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 |
| Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Thin bony cortex, Osteolysis |
OMIM:174810 |
| Juvenile Hyaline Fibromatosis |
|
Joint stiffness, Abnormality of the gastrointestinal tract, Progressive flexion contractures, Ost... |
ORPHA:2028 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Osteoporosis, Flexion contracture, Progressive flexion contractures, Osteolysis |
OMIM:228600 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis |
ORPHA:970 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
| Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
| Mu-Heavy Chain Disease |
|
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis |
ORPHA:100024 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Rosaï-Dorfman Disease |
|
Anemia, Osteolysis |
ORPHA:158014 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Desmoid Tumor |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal polyposis, Limitation of joint mo... |
ORPHA:873 |
| Keratoderma Hereditarium Mutilans |
|
Cleft palate, Osteolysis |
ORPHA:494 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormal bone ossification, Osteolysis involving bones of the lower limbs, Osteolysis... |
ORPHA:73 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Ramon Syndrome |
|
Narrow palate, Osteolysis |
ORPHA:3019 |
| Infantile Myofibromatosis |
|
Intestinal obstruction, Neoplasm of the pancreas, Bone cyst, Abnormal intestine morphology, Limit... |
ORPHA:2591 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Abnormal cortical bone morphology, Anemia, Craniofacial hyperostosis |
ORPHA:1802 |
| Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Pituitary adenoma, Parathyroid adenoma, Dysp... |
ORPHA:163634 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones |
ORPHA:564003 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... |
ORPHA:67044 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocyto... |
OMIM:615631 |
| Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
| Osteosarcoma |
|
Pathologic fracture, Osteolysis |
ORPHA:668 |
| Eiken Syndrome |
|
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Ollier Disease |
|
Joint stiffness, Anemia, Osteolysis |
ORPHA:296 |
| Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis |
ORPHA:3294 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leuk... |
ORPHA:98850 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Hyperparathyroidism, Os... |
ORPHA:93160 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Metacarpal osteolysis, Carpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, ... |
ORPHA:2774 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Anemia, Neoplasm of the tongue, Abnormal lymphocyte morphology, Rheu... |
ORPHA:100026 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Hyperostosis, Arthritis, Inflammation of the large intestine, Osteolysis, Craniofacial os... |
ORPHA:324964 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Hutchinson-Gilford Progeria Syndrome |
|
Generalized osteoporosis, Osteolysis |
OMIM:176670 |
| 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 |
|
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... |
OMIM:600785 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology |
ORPHA:166277 |
| Ciliary Dyskinesia, Primary, 21 |
|
Bronchiectasis, Recurrent pneumonia, Atelectasis |
OMIM:615294 |
| Florid Cemento-Osseous Dysplasia |
|
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... |
ORPHA:83451 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
| Classic Hodgkin Lymphoma |
|
Splenomegaly, Osteolysis |
ORPHA:391 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... |
ORPHA:371428 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... |
OMIM:616726 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Bare Lymphocyte Syndrome, Type I |
|
Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis |
OMIM:604571 |
| Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... |
OMIM:613673 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
| Tenosynovial Giant Cell Tumor |
|
Localized osteoporosis, Limitation of joint mobility, Joint stiffness, Joint hemorrhage, Osteolysis |
ORPHA:66627 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Fused cervical vertebrae, Neutrophilia, Splenomegaly, Osteolysis, Absces... |
OMIM:612852 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... |
ORPHA:1310 |
| Frank-Ter Haar Syndrome |
|
Joint stiffness, Camptodactyly of finger, Osteolysis |
ORPHA:137834 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Osteoarthritis, Osteolysis |
ORPHA:1657 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:619466 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Abnormal enchondral ossification, Joint stiffness, Camptodacty... |
ORPHA:2635 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Pathologic fracture, Calvarial hyperostosis, Osteolysis, Increased susceptibility to fractures |
ORPHA:52430 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Paget Disease Of Bone 2, Early-Onset |
|
Osteosclerosis of the ulna, Fractures of the long bones, Sclerosis of skull base, Osteolysis, Inc... |
OMIM:602080 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... |
OMIM:161700 |
| Pyle Disease |
|
Limited elbow extension, Reduced bone mineral density, Thin bony cortex |
OMIM:265900 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean... |
OMIM:616860 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Pachydermoperiostosis |
|
Peptic ulcer, Gastrointestinal hemorrhage, Abnormal cortical bone morphology, Anemia, Arthritis, ... |
ORPHA:2796 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis |
ORPHA:1525 |
| Ck Syndrome |
|
Joint hypermobility, High palate, Abnormal cortical bone morphology |
OMIM:300831 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Arthritis, Dysphagia, Flexion contracture, Osteolysis, Xerostomia |
ORPHA:220393 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormal bone ossification, Abnormal ossification involving ... |
ORPHA:2114 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells, R... |
OMIM:224120 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Caffey Disease |
|
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... |
OMIM:114000 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastritis, Gastroesophageal reflux, Arthritis, Xerostomia, Joint sti... |
ORPHA:809 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hypermobility, Osteoporosis |
ORPHA:2787 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
| Felty Syndrome |
|
Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobility, Synovitis, Throm... |
ORPHA:47612 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Sapho Syndrome |
|
Steatorrhea, Hyperostosis, Arthritis, Synovitis, Inflammation of the large intestine, Enthesitis,... |
ORPHA:793 |
| Familial Nasal Acilia |
|
Bronchiectasis, Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respi... |
ORPHA:922 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis |
ORPHA:397685 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Reduced bone mineral density, Osteoporosis, Secondary growth hormone deficiency, Increased circul... |
ORPHA:2410 |
| Idiopathic Bronchiectasis |
|
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... |
ORPHA:60033 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Reduced bone mineral density, Recurrent fractures, Thin bony cortex |
OMIM:619795 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobil... |
ORPHA:90153 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Gastrointestinal hemorrhage, Melena, Osteolysis involving bones of the lower limbs, ... |
ORPHA:464321 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Gastroesophageal reflux, Osteoporosis, Eosinophilic infiltration of the esophagus, Gastrointestin... |
OMIM:620532 |
| Gaucher Disease Type 1 |
|
Osteopenia, Anemia, Cholelithiasis, Pancytopenia, Splenic infarction, Osteoporosis, Splenic ruptu... |
ORPHA:77259 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Proteus Syndrome |
|
Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex |
OMIM:176920 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Joint stiffness, Generalized osteoporosis, Flexion contracture, Osteolysis |
ORPHA:423461 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... |
OMIM:144750 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... |
ORPHA:2494 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:600081 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Testicular neoplasm, Osteomalacia, Abnormal bone structure, Cortical irregularity, Hyper... |
ORPHA:249 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... |
ORPHA:79127 |
| Grant Syndrome |
|
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Chronic bronchitis, Panacinar emphysema |
OMIM:613490 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Joi... |
OMIM:614008 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Recurrent fractures, Abnormal cortical bone morphology |
ORPHA:1486 |
| Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... |
ORPHA:263665 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures |
OMIM:166260 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... |
OMIM:300554 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Usual interstitial pneumonia, Pulmonary fibrosis |
OMIM:616373 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... |
OMIM:300835 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema |
ORPHA:1164 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Cholelithiasis, Increased fecal coproporphyrin 1, Thrombocytopenia, Splenomegaly, Pat... |
OMIM:263700 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:617970 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Small pituitary gland, Osteoporosis, Decreased testicular size, Cleft palate, Cryptor... |
OMIM:614880 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology |
OMIM:215520 |
| Intermediate Osteopetrosis |
|
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... |
ORPHA:210110 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... |
OMIM:241530 |
| Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
| Bronchopulmonary Dysplasia |
|
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis |
ORPHA:70589 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Familial Dysautonomia |
|
Gastroesophageal reflux, Recurrent fractures, Osteolysis |
ORPHA:1764 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Fractures of the long bones, Abnormal spleen morphology, Hepatosplenomegaly, Splenomegaly... |
ORPHA:464329 |
| Familial Spontaneous Pneumothorax |
|
Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Secondary hyperparathyroidism, ... |
OMIM:264700 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... |
OMIM:612387 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Secondary hyperparathyroidism, ... |
OMIM:277440 |
| H Syndrome |
|
Camptodactyly, Decreased testicular size, Hepatosplenomegaly, Microcytic anemia, Histiocytosis, R... |
ORPHA:168569 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90154 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
| Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Recurrent upper respiratory tract infections, Bron... |
OMIM:193670 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... |
ORPHA:1876 |
| Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Osteolysis |
ORPHA:678 |
| Rh Deficiency Syndrome |
|
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... |
ORPHA:71275 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... |
OMIM:301310 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Dent Disease 1 |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... |
OMIM:300009 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Delayed epiphyseal ossification, Leukocytosis, Splenomegaly, Sparse bone trabeculae, Sec... |
ORPHA:289157 |
| Osteogenesis Imperfecta, Type Xviii |
|
Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex |
OMIM:617952 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Osteoporosis |
ORPHA:85193 |
| Gaucher Disease Type 3 |
|
Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, Splenomegaly, Osteolysis,... |
ORPHA:77261 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Atelectasis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Leukocyto... |
OMIM:618278 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Arthritis, Abnormal gastric mucosa morphology, Dysphagia, Xerostomia |
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, Coarse metaphyseal trabecularization, Recurrent fractures, Osteoporosis |
ORPHA:2801 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly |
OMIM:612301 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture, H... |
OMIM:620366 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Osteoporosis, Hemolytic anemia, Increased fecal porphyrin, Splenomegaly, Erythroid hy... |
ORPHA:95159 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Neutropenia, Splenic abscess, Brain ... |
ORPHA:73263 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Duodenal ulcer, Dysphagia, Recurrent cutaneous abscess formation, Joint hypermobility, Craniosyno... |
OMIM:147060 |
| Occipital Horn Syndrome |
|
Rickets, Osteopenia, High, narrow palate, Abnormal esophagus physiology, Gastroesophageal reflux,... |
ORPHA:198 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Stomach cancer, Acute lymphoblastic leukemia, Cleft palate, Colon cancer, O... |
ORPHA:1052 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Decreased testicular size, Cleft palate, Osteoporosis |
OMIM:614838 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Decreased skull ossification, Osteoporosis, Intestinal malrotation, Cleft palate, Coa... |
ORPHA:955 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Hepatomegaly |
OMIM:604273 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Increased fecal coproporphyrin 1, Osteoporosis, Reticulocytosis, Poikilocytosis, Incr... |
ORPHA:79277 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Cranial hyperostosis, Pancytopenia, Cortical thickening of long bone diaphyses, Joint... |
ORPHA:309282 |
| Gaucher Disease |
|
Osteopenia, Anemia, Cholelithiasis, Pancytopenia, Increased bone mineral density, Abnormal bone s... |
ORPHA:355 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Anemia, Osteolysis |
ORPHA:35687 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Anemia, Bone cyst, Bilateral cryptorchidism, Hip contracture, Flexion contracture, Osteolysis |
ORPHA:3042 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis |
OMIM:126550 |
| Incontinentia Pigmenti |
|
Spina bifida occulta, Camptodactyly of finger, Eosinophilia, Supernumerary nipple, Osteolysis |
ORPHA:464 |
| Gm1-Gangliosidosis, Type Ii |
|
Sea-blue histiocytosis, Protruding tongue, Joint stiffness, Splenomegaly, Dysphagia, Thin bony co... |
OMIM:230600 |
| Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis |
OMIM:618913 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Osteoporosis |
OMIM:610628 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Duodenal ulcer, Reduced bone mineral density, Neoplasm of the pancreas, Pheochromocy... |
ORPHA:652 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of middle finger phalanx, Coarse metaphysea... |
ORPHA:85188 |
| Encephalocraniocutaneous Lipomatosis |
|
Bone cyst, Craniofacial hyperostosis, Osteolysis |
ORPHA:2396 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology, Cholelithiasis |
OMIM:614886 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Intraalveolar phospholipid accumulation |
OMIM:300770 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... |
OMIM:610921 |
| Cryptococcosis |
|
Lymphoid leukemia, Osteomyelitis, Osteolysis |
ORPHA:1546 |
| Melnick-Needles Syndrome |
|
Joint hypermobility, Osteolytic defects of the phalanges of the hand, Craniofacial hyperostosis, ... |
ORPHA:2484 |
| Bruck Syndrome |
|
Joint stiffness, Arthrogryposis multiplex congenita, Recurrent fractures, Osteoporosis |
ORPHA:2771 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618187 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Rothmund-Thomson Syndrome Type 2 |
|
Finger symphalangism, Osteopenia, Aplastic anemia, Neutropenia, Anemia, Functional abnormality of... |
ORPHA:221016 |
| Thrombocytopenia 6 |
|
Thrombocytopenia, Myelofibrosis, Osteoporosis |
OMIM:616937 |
| Chikungunya |
|
Periostitis, Arthritis, Synovitis, Joint stiffness, Enthesitis, Stiff interphalangeal joints, Ost... |
ORPHA:324625 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, High palate, Acroosteolysis of distal pha... |
OMIM:608612 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Breast hypoplasia, Reduced bone mineral density, Anterior hypopituitarism, Reduced circulating pr... |
ORPHA:2235 |
| Tracheobronchopathia Osteochondroplastica |
|
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections |
ORPHA:3348 |
| Dent Disease |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... |
ORPHA:1652 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Anemia, Abnormal trabecul... |
ORPHA:2909 |
| Chime Syndrome |
|
Acute leukemia, Cleft palate, Osteolysis |
ORPHA:3474 |
| Rothmund-Thomson Syndrome Type 1 |
|
Finger symphalangism, Osteopenia, Aplastic anemia, Anemia, Functional abnormality of the gastroin... |
ORPHA:221008 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Pyloric stenosis, Decreased calvarial ossification, Joint hypermobility, Thin bony co... |
OMIM:613848 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections |
OMIM:242700 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Abnormal cortical bone morphology, Smooth tongue, Elbow flexion contracture, Limitati... |
ORPHA:3206 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car... |
OMIM:259600 |
| Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Elbow flexion contracture, Osteolytic defects of the distal phalanges of the hand, Hi... |
OMIM:248370 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macr... |
ORPHA:227990 |
| C1Q Deficiency 2 |
|
Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections |
OMIM:620321 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... |
ORPHA:2302 |
| Recurrent Respiratory Papillomatosis |
|
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... |
ORPHA:60032 |
| Coccidioidomycosis |
|
Arthritis, Granuloma, Abnormality of the spleen, Osteolysis, Eosinophilia, Abscess, Osteomyelitis |
ORPHA:228123 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Bronchitis, Emphysema |
ORPHA:60 |
| Acute Interstitial Pneumonia |
|
Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening, Pulmonary fibrosis... |
ORPHA:79126 |
| Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... |
ORPHA:755 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Reduced bone mineral density, Hypoparathyroidism, Cholelithiasis, Hepatocellular carc... |
ORPHA:231222 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... |
OMIM:273250 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Hypophosphatasia |
|
Emphysema |
ORPHA:436 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Bronchiolitis, Pulmonary fibrosis |
ORPHA:254361 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst |
ORPHA:2357 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
High, narrow palate, Hyperextensibility of the finger joints, Osteoporosis, Cleft palate, Bifid u... |
OMIM:309583 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macr... |
ORPHA:227982 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... |
OMIM:619079 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, B lymphocytopenia, T lymphocytopenia, Inflammation of the large inte... |
OMIM:618108 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Nasal polyposis, Bronchiectasis, Pne... |
OMIM:244400 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Absence of intrinsic factor, Megaloblast... |
OMIM:261000 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Osteopetrosis, High, narrow palate, Abnormal cortical bone morphology, Incr... |
ORPHA:2658 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Rectal prolapse, High, narrow palate, Anorectal anomaly, Gastroesophageal reflux, Limitation of j... |
ORPHA:285 |
| Serrated Polyposis Syndrome |
|
Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary ... |
ORPHA:157798 |
| Spondyloocular Syndrome |
|
Osteopenia, Femur fracture, Duodenal ulcer, Unilateral cryptorchidism, Thin bony cortex |
OMIM:605822 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft palate, Atrophic gastritis, Stomach cancer |
OMIM:137215 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... |
ORPHA:90797 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Hypoplasia of the uterus |
OMIM:619151 |
| Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla |
OMIM:619632 |
| Williams Syndrome |
|
Osteopenia, Peptic ulcer, Rectal prolapse, Cholelithiasis, Gastroesophageal reflux, Increased bon... |
ORPHA:904 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Acute leukemia, Cryptorchidism, Testicular seminoma |
ORPHA:281090 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Hypersensitivity pneumonitis, Atelectasis |
ORPHA:2902 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Pheochromocytoma, Leukemia, Gastrointestinal stroma tumor, Osteoporosis, Thickened co... |
ORPHA:97685 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Osteoporosis, Joint hypermobility, Cryptorchidism |
OMIM:619718 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Arthritis, Crohn's disease, Splenomegaly, Atrophic gastritis, Lympho... |
OMIM:616100 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Osteolytic defects of the phalanges of the hand, Gastr... |
ORPHA:90291 |
| Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Thin bony cortex, Narrow palate |
OMIM:277600 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... |
OMIM:610978 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Gastroesophageal reflux, Pancytopenia,... |
OMIM:613658 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
| Primary Ciliary Dyskinesia |
|
Atelectasis, Pulmonary situs ambiguus, Nasal polyposis, Respiratory tract infection, Recurrent si... |
ORPHA:244 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Steatorrhea, Iron deficiency anemia, Osteoporosis, Osteomalacia, Colitis |
ORPHA:309031 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
| Oculodentodigital Dysplasia |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Hyperostosis, Camptodactyly of finger, C... |
ORPHA:2710 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... |
OMIM:614841 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema |
ORPHA:634 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Atrophic gastritis |
OMIM:616576 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Anemia, Arthritis, Crohn's disea... |
OMIM:619381 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Villous atrophy, Pancytopenia, Decreased proportion of class-switche... |
OMIM:614700 |
| Common Variable Immunodeficiency |
|
Emphysema, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory infections |
ORPHA:1572 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte m... |
ORPHA:2575 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... |
OMIM:614837 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Esophageal ulceration, Gastric ulcer, Iron deficiency anemia |
OMIM:618372 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, High palate, Camptodactyly, Cortical irregularity, Osteoporosis |
OMIM:249420 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Anoperineal fistula, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Art... |
OMIM:301074 |
| Ciliary Dyskinesia, Primary, 20 |
|
Absent outer dynein arms, Atelectasis, Pulmonary artery stenosis, Recurrent sinusitis, Recurrent ... |
OMIM:615067 |
| Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Bilateral lung agenesis, Pulmonary artery atresia, Bicornuate uterus, Cryp... |
OMIM:601186 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Emphysema, Anemia, Pulmonary bulla, Repeated pneumothoraces, Cervical insufficiency... |
OMIM:130050 |
| Hypocomplementemic Urticarial Vasculitis |
|
Pleural effusion, Emphysema |
ORPHA:36412 |
| Meckel Syndrome 14 |
|
Pneumothorax, Ambiguous genitalia, Aplasia of the uterus, Pulmonary hypoplasia |
OMIM:619879 |
| Weill-Marchesani Syndrome 2 |
|
Narrow palate, Flexion contracture of toe, Elbow flexion contracture, High palate, Joint stiffnes... |
OMIM:608328 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Osteogenesis Imperfecta |
|
Osteopenia, Intestinal obstruction, Reduced bone mineral density, Abnormal cortical bone morpholo... |
ORPHA:666 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer, Anemia |
OMIM:208060 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:219100 |
| Hepatoportal Sclerosis |
|
Gastric varix, Gastrointestinal hemorrhage, Anemia, Esophageal varix, Hepatocellular carcinoma, L... |
ORPHA:64743 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Crohn's disease, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:436159 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Pulmonary hypoplasia, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Vascular Ehlers-Danlos Syndrome |
|
Gastrointestinal infarctions, High, narrow palate, Abnormal intestine morphology, Osteoarthritis,... |
ORPHA:286 |
| Aspartylglucosaminuria |
|
Abnormal cortical bone morphology, Arthritis, Joint stiffness, Splenomegaly, Macroglossia, Macroo... |
ORPHA:93 |
| Atypical Werner Syndrome |
|
Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Ovarian neoplasm, ... |
ORPHA:79474 |
| Pseudoaminopterin Syndrome |
|
Limited elbow movement, High palate, Synostosis of carpal bones, Asplenia, Cryptorchidism, Sagitt... |
ORPHA:221120 |
| Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis |
ORPHA:160148 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:123700 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... |
OMIM:620233 |
| Pagod Syndrome |
|
Abnormal testis morphology, Pulmonary artery hypoplasia, Female pseudohermaphroditism, Pulmonary ... |
ORPHA:991 |
| Wolfram Syndrome |
|
Joint stiffness, Gastrointestinal hemorrhage, Gastric ulcer, Anemia |
ORPHA:3463 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... |
OMIM:278850 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly... |
ORPHA:538 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Gastritis, Neutropenia, Iron deficiency anemia, Reduced proportion o... |
ORPHA:37042 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Scimitar anomaly, Aplasia of the uter... |
OMIM:618280 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:168558 |
| Hutchinson-Gilford Progeria Syndrome |
|
Reduced bone mineral density, Progressive clavicular acroosteolysis, Osteolytic defects of the di... |
ORPHA:740 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
| Congenital Tracheomalacia |
|
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... |
ORPHA:95430 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:289548 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Gastritis, Lymphocytosis, Arthritis, Neoplasm of the tongue, Hepatoc... |
ORPHA:3261 |
| Hardikar Syndrome |
|
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... |
OMIM:301068 |
| Whim Syndrome |
|
Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re... |
ORPHA:51636 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology |
ORPHA:247768 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... |
ORPHA:432 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:615300 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary |
ORPHA:3109 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... |
OMIM:154230 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Emphysema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Peripheral pulmonary artery st... |
OMIM:613177 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema |
ORPHA:90349 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... |
ORPHA:90796 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia |
OMIM:619708 |
| Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Emphysema |
OMIM:614816 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated bronchoalveolar... |
OMIM:181000 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... |
ORPHA:2538 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormality of the pulmonary artery, Emphysema |
ORPHA:363618 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Cholelithiasis, Pancytopenia, Esophageal varix, Hepatosplenomegaly, Splenomegaly, Abnorma... |
ORPHA:2072 |
| Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Emphysema |
OMIM:616835 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... |
OMIM:202010 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
| Nocardiosis |
|
Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia |
ORPHA:31204 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Spina bifida occulta, High palate, Intestinal malrotation, Cleft palate, Joint hy... |
OMIM:135900 |
| Syndromic Diarrhea |
|
Gastritis, Colitis, Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymph... |
ORPHA:84064 |
| Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... |
ORPHA:90794 |
| Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Abnormal duodenum morphology, Abnormal stomach morphology, Intussusc... |
ORPHA:512 |
| Ellis Van Creveld Syndrome |
|
Emphysema, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Anemia, Micropenis |
OMIM:614083 |
| Keutel Syndrome |
|
Recurrent bronchitis, Peripheral pulmonary artery stenosis, Emphysema, Pulmonary artery hypoplasia |
OMIM:245150 |
| Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Recurrent pneumonia, Atelectasis |
OMIM:306400 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia |
OMIM:274000 |
| Neonatal Marfan Syndrome |
|
Emphysema |
ORPHA:284979 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... |
ORPHA:141127 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Hydrolethalus Syndrome 1 |
|
Abnormal lung lobation, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus |
OMIM:236680 |
| Meier-Gorlin Syndrome 1 |
|
Emphysema |
OMIM:224690 |
| Sarcoidosis |
|
Pneumothorax, Emphysema, Chylothorax, Abnormal nasal mucosa morphology, Pleural effusion, Abnorma... |
ORPHA:797 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism |
OMIM:614527 |
| Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema, Bronchiolitis |
ORPHA:90348 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia of the uterus, Hypoplastic ... |
OMIM:618419 |
| Marfan Syndrome |
|
Pneumothorax, Pulmonary artery dilatation, Emphysema |
OMIM:154700 |
| Fabry Disease |
|
Emphysema |
ORPHA:324 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Ethylene Glycol Poisoning |
|
Gastritis |
ORPHA:31826 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Pulmonary hypoplasia, Cryptorchidism |
OMIM:256520 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema |
OMIM:614437 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... |
OMIM:241080 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... |
ORPHA:322 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus |
OMIM:137920 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Cryptorchidism |
OMIM:194190 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... |
OMIM:201750 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Emphysema, Unilateral lung agenesis |
ORPHA:500150 |
| Peters Plus Syndrome |
|
Hypospadias, Abnormal pulmonary vein morphology, Clitoral hypoplasia, Abnormality of the pulmonar... |
ORPHA:709 |
| Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Pulmonary hyp... |
OMIM:601803 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... |
OMIM:107480 |
| Viss Syndrome |
|
Pneumothorax, Pulmonary artery aneurysm, Emphysema |
OMIM:619472 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
ORPHA:572333 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Peters-Plus Syndrome |
|
Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of the ute... |
OMIM:261540 |
