| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Reticulocytosis, Anemia, Optic disc pallor, Thrombocytopenia, Ost... |
OMIM:611490 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
| Van Buchem Disease |
|
Optic atrophy from cranial nerve compression, Increased bone mineral density, Thickened cortex of... |
OMIM:239100 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density, Optic atrophy |
ORPHA:178377 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... |
ORPHA:210110 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification, Anemia |
ORPHA:3319 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Optic atrophy, Abnormal cortical bone morphology, Increased bone miner... |
ORPHA:3152 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Pathologic fracture, Anemia, Papilledema, Osteopetrosis, Cortical... |
OMIM:620366 |
| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Osteopoikilosis, Joint stiffness |
OMIM:166700 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Reduced b... |
ORPHA:891 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial hyperostosis, Craniofacial osteosclerosis, Papilledema, Cortic... |
OMIM:122860 |
| Isolated Osteopoikilosis |
|
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Joint stiff... |
ORPHA:166119 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... |
OMIM:133780 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Osteopetrosis, Optic atrophy, Splenomegaly |
OMIM:615085 |
| Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis |
ORPHA:564003 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... |
OMIM:231095 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Sclerosis of foot bone, Joint stiffness, Arthritis, Limitation of movement a... |
ORPHA:566943 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... |
OMIM:259710 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Calvarial osteoscl... |
OMIM:259700 |
| Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Anemia, Osteoarthritis, Arthritis, Osteomyelitis, Recurrent fractures... |
ORPHA:53 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Leukocytosis, Anemia, Arthritis, Splenomegaly |
ORPHA:37748 |
| Beta-Thalassemia |
|
Reduced bone mineral density, Anemia, Abnormal hemoglobin, Irritability, Microcytic anemia, Throm... |
ORPHA:848 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... |
OMIM:193235 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Eales Disease |
|
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Epiretinal membrane,... |
ORPHA:40923 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... |
ORPHA:232 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased bone mineral density, Osteoporosis, Ankylosis, Osteopenia, Retinal degeneration, Angioi... |
OMIM:239000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... |
OMIM:259720 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly |
ORPHA:846 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Hypopigmentation of the fundus, Retinal detachment, Delayed patel... |
ORPHA:163649 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... |
OMIM:166600 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Optic nerve compr... |
OMIM:259730 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ... |
ORPHA:1782 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Increased bone mineral density, Stiff knee, Abnormal epiphyseal ossification... |
ORPHA:93284 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Anxiety, Depression, Irritability |
ORPHA:36913 |
| Camurati-Engelmann Disease |
|
Diaphyseal sclerosis, Increased bone mineral density, Anemia, Cortical thickening of long bone di... |
OMIM:131300 |
| Majeed Syndrome |
|
Increased bone mineral density, Leukocytosis, Increased susceptibility to fractures, Osteomyeliti... |
ORPHA:77297 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Leukopenia, Pathologic fracture, Anemia, Osteoarthrit... |
ORPHA:77259 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Anemia, Papilledema, Retinal calcification, Thickened cortex of l... |
OMIM:127000 |
| Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Hyperostosis, Arthritis, Recurrent... |
ORPHA:1306 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... |
OMIM:193220 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Osteopetrosis, Splenomegaly |
OMIM:612840 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Apathy, Normocytic anemia, Abnormal retinal vascular morphology, Anxiety, Irritability, Retinal c... |
ORPHA:247691 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... |
ORPHA:90650 |
| Gaucher Disease |
|
Increased bone mineral density, Abnormal macular morphology, Osteolysis, Joint stiffness, Arthrog... |
ORPHA:355 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility |
ORPHA:628 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
| Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Increased bone mineral density, Anxiety, Irritability, Increased bone densi... |
ORPHA:94089 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Dec... |
ORPHA:231222 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Limitation of knee mo... |
OMIM:614856 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture, Optic neuropathy, Retinal crystals, Retinopa... |
OMIM:259900 |
| Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of hand bone, Polycythemia, Papilledema, Sclerosis of skull bas... |
ORPHA:2905 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... |
ORPHA:85188 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Trichothiodystrophy |
|
Craniosynostosis, Increased bone mineral density, Increased mean corpuscular hemoglobin concentra... |
ORPHA:33364 |
| Dysosteosclerosis |
|
Sclerosis of hand bone, Osteopenia, Sclerotic scapulae, Clavicular sclerosis, Increased susceptib... |
OMIM:224300 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Aplasia/Hypoplasia of the optic nerve, Optic disc pallor, Macular coloboma, Retin... |
ORPHA:423479 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness, Abnormality of retinal pigmentation |
ORPHA:902 |
| Acquired Methemoglobinemia |
|
Anxiety, Methemoglobinemia |
ORPHA:464453 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Fractures of the long bones |
OMIM:167250 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Joint hypermobility, Persistence of hemoglobin F |
OMIM:617101 |
| Bone Marrow Failure Syndrome 3 |
|
Retinal dystrophy, Reduced bone mineral density, Aplastic anemia, Anemia, Persistence of hemoglob... |
OMIM:617052 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Abnormal trabecular bone morphology, Optic nerve compression, Osteopetrosis, Optic atroph... |
OMIM:612301 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231226 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Increased skull ossification, Osteopetrosis, O... |
OMIM:618476 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... |
ORPHA:231214 |
| Pycnodysostosis |
|
Hepatosplenomegaly, Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral ... |
ORPHA:763 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... |
ORPHA:2780 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Joint stiffness, Abnormal hemoglobin, Anemia, Self-injurious behavior, Flexion contracture, Optic... |
ORPHA:847 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Tracheomalacia, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Pathologic fracture, Osteomyelitis leading to amputation due to slow healing fractures, Osteopeni... |
OMIM:112250 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Anemia, Thrombocytopenia, Increased susceptibility to... |
ORPHA:77261 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis |
ORPHA:3240 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification, Anxiety, Irritability, Depression |
ORPHA:79444 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Anx... |
ORPHA:79443 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly |
ORPHA:35107 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Schwartz-Jampel Syndrome |
|
Increased bone mineral density, Joint stiffness, Flexion contracture of toe, Anxiety, Osteoporosi... |
ORPHA:800 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal retinal morphology, Elliptocytosis, Leukopenia, Retinal atrophy, Anemia, Thrombocytopeni... |
ORPHA:2785 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho... |
ORPHA:289176 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Optic disc pallor, Recurrent fractures, Retinopathy, Optic atrophy, C... |
ORPHA:416 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteolysis, Osteomyelitis, Anemia |
ORPHA:35687 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Abnormality of the spleen |
ORPHA:94063 |
| Lead Poisoning |
|
Anemia, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Depression, Abnormal T cell morpho... |
ORPHA:330015 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Synostosis of carpal bones, Carpal synos... |
ORPHA:90652 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Increased bone mineral density, Abnormal cortical bone morphology, Facial hypero... |
ORPHA:2658 |
| Atypical Werner Syndrome |
|
Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive... |
ORPHA:79474 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Reduced bone mineral density, Anemia, Optic nerve compression, Osteopetrosis, R... |
ORPHA:667 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Irregular ossification at ant... |
OMIM:260400 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Subperiosteal bone formation, Increased bone mineral density |
OMIM:259775 |
| X-Linked Hypophosphatemia |
|
Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Enthesitis, ... |
ORPHA:89936 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Leukemia, Imbalanced hemoglobin synthesis, Rheumatoid art... |
ORPHA:99867 |
| Sclerosteosis 1 |
|
Papilledema, Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense... |
OMIM:269500 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Desmosterolosis |
|
Arthrogryposis multiplex congenita, Generalized osteosclerosis, Joint contracture of the hand |
OMIM:602398 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Williams Syndrome |
|
Increased bone mineral density, Joint stiffness, Anxiety, Osteoporosis, Synostosis of joints, Ost... |
ORPHA:904 |
| Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... |
OMIM:119600 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:301040 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Splenopancreatic fusion, Thickened cortex of long bones, Scleros... |
OMIM:269150 |
