| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
| Severe Hemophilia A |
|
Joint hemorrhage, Joint swelling, Progressive joint destruction, Prolonged bleeding following cir... |
ORPHA:169802 |
| Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... |
ORPHA:325 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone pain, Recurrent fractures, Nephrolithiasis, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnor... |
ORPHA:93160 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Short ... |
ORPHA:172 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Metaphyseal cupping, Elevated circulating par... |
OMIM:619073 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
| Hemophilia A |
|
Joint hemorrhage, Joint swelling, Bleeding with minor or no trauma, Intracranial hemorrhage, Intr... |
ORPHA:98878 |
| Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
| Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Persistent bleeding after trauma, Hepatic failure, Prolonged bleeding after den... |
ORPHA:331 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypophosphatemic rickets, Hypop... |
ORPHA:157215 |
| Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... |
ORPHA:326 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Hyperlipidemia, Prolonged bleeding following circumcision, Bruising susceptibil... |
ORPHA:35909 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... |
ORPHA:564003 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Sh... |
OMIM:619795 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypo... |
ORPHA:53 |
| Moderate Hemophilia A |
|
Joint hemorrhage, Joint swelling, Hip contracture, Subdural hemorrhage, Subcutaneous hemorrhage, ... |
ORPHA:169805 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Nephrolithiasis,... |
OMIM:300554 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Thin bony cortex, Difficulty walk... |
OMIM:264700 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Osteomalacia, Rickets |
OMIM:146350 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Gait disturba... |
ORPHA:2501 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Genu valgum, Flattening of the ta... |
OMIM:307800 |
| Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Growth delay, Cortical thickening of long bone diaphyses, Hypocalcemia, Postnatal growth retardat... |
ORPHA:93324 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... |
ORPHA:1802 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Thin bony cortex, Difficulty walk... |
OMIM:277440 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Cere... |
OMIM:263300 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Thin bony cortex, Difficulty walk... |
ORPHA:289157 |
| Dent Disease 1 |
|
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... |
OMIM:300009 |
| Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Bruising susceptibility, Post-partum hemorrhage, Intracranial hemorrhage, Menor... |
ORPHA:327 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... |
ORPHA:3152 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Coxa vara, Failure to thrive, Osteomyelitis, Hepatomegal... |
OMIM:259700 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... |
ORPHA:53697 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
| Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Decreased HDL... |
OMIM:615703 |
| Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Intramuscular hematoma... |
OMIM:227500 |
| Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
| Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Diarrhea, Autoimmune thromboc... |
ORPHA:324636 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Spinal rigidity, Flexion contracture, Elevated circulating creatine kinase concentr... |
OMIM:615883 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ... |
ORPHA:99879 |
| Bleeding Disorder In Hemophilia A Carriers |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Abnormal bleeding, Prolonged b... |
ORPHA:177926 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis |
OMIM:601709 |
| Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... |
OMIM:193400 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
| +173470 integrin, beta-3 |
|
Neonatal alloimmune thrombocytopenia, Bruising susceptibility, Abnormal bleeding, Intracranial he... |
OMIM:173470 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphysea... |
OMIM:156400 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... |
ORPHA:465 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... |
ORPHA:417 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Growth delay, Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency a... |
ORPHA:89937 |
| Congenital Factor Xi Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... |
ORPHA:329 |
| Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Alopecia, Splenomegaly, Growth delay, Anemia, Lymphadenopathy |
ORPHA:100025 |
| Hemophilia A With Vascular Abnormality |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Osteoarthritis, Gast... |
OMIM:306800 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis, Osteomalacia, Rickets |
OMIM:267200 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Hemophilia B |
|
Joint hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Osteoarthritis, Gastrointe... |
OMIM:306900 |
| Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule... |
OMIM:268315 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... |
ORPHA:249 |
| Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Intramuscular hematoma... |
OMIM:227600 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... |
ORPHA:2494 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Small hand, Birth length... |
OMIM:244460 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Prolonged bleeding af... |
OMIM:231200 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, Increa... |
ORPHA:94089 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Abnormality of femur morphology, Tibial bowing, Hypocalcemia, Hypophosph... |
ORPHA:352540 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Sudden cardiac death, Osteoporosis, Gout, Hypertriglyceridemia, Myocardial infarc... |
OMIM:610947 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Rickets, Corneal crystals |
OMIM:219900 |
| Sitosterolemia 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... |
OMIM:618666 |
| Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Metaphyseal irregularity, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Fai... |
OMIM:239200 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Hepatosplenomegaly, Hypertrig... |
OMIM:612526 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
| Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Abdominal distention, Abdominal pain, Feeding difficulties in infancy, I... |
ORPHA:2924 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Rickets |
OMIM:193100 |
| Hemophilia A |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Muscle hemorrhage, O... |
OMIM:306700 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Weight loss, Abnormal esophagus physiolo... |
ORPHA:2198 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... |
OMIM:146300 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus, Pigmentary retinopathy, Osteoporosis, Rickets |
OMIM:560000 |
| Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... |
OMIM:137560 |
| Oculoskeletodental Syndrome |
|
Low anterior hairline, Hepatomegaly, Hypocalcemia, Splenomegaly, Renal agenesis, Short stature, S... |
OMIM:618440 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Arthralgia of the hip, Disproportionate short-trunk short stature, Difficulty walk... |
ORPHA:99642 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retardation, Failure... |
OMIM:232700 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Short stature, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:613388 |
| Mccune-Albright Syndrome |
|
Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Accelerated skeleta... |
ORPHA:562 |
| Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney, Sco... |
ORPHA:2611 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Brachydactyly, Hyperphosphatemia, O... |
OMIM:603233 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Hypophosphatasia, Infantile |
|
Bowing of the legs, Disproportionate short-limb short stature, Metaphyseal cupping, Failure to th... |
OMIM:241500 |
| Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H... |
ORPHA:213 |
| Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Increased s... |
OMIM:612287 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Distal renal tubul... |
OMIM:179800 |
| Dent Disease |
|
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... |
ORPHA:1652 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Failure to thrive, Beaking of vertebral bodies, Kyphoscoliosis, Short sta... |
ORPHA:93359 |
| Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Broad-based gait, Recurrent fractures, Inability to walk, Osteopenia, Spasticity |
OMIM:619884 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Elevated circ... |
OMIM:612089 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... |
OMIM:614732 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... |
OMIM:612286 |
| Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
| Mazabraud Syndrome |
|
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones |
ORPHA:57782 |
| Monosomy 5P |
|
Recurrent fractures, Short stature, Small hand, Short neck, Scoliosis, Abnormality of bone minera... |
ORPHA:281 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Epistaxis |
OMIM:605735 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... |
OMIM:277450 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Severe intrauterine growth retardation, Hypocalcemia, Decreased response to growth hormone stimul... |
OMIM:241410 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Paralysis, Paresis of extensor muscles of the big toe |
OMIM:608634 |
| Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Micropenis, Short stature, Flared metaphysis, Brachydactyly, Sle... |
OMIM:602361 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Abdominal pain, Splenomegaly, Abnormal bleeding, Coronary artery ather... |
OMIM:210250 |
| Senior-Loken Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Abnormality of bone mineral d... |
ORPHA:3156 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cataract |
ORPHA:1397 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
| Bruck Syndrome 1 |
|
Hip contracture, Coxa vara, Kyphosis, Short stature, Platyspondyly, Scoliosis, Osteoporosis, Prot... |
OMIM:259450 |
| Glanzmann Thrombasthenia 1 |
|
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... |
OMIM:273800 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Hepatomegaly, Coarse hair, Short neck, Enlarged kidney, Long eyelashes, Protei... |
OMIM:617303 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... |
OMIM:618889 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Catara... |
OMIM:136300 |
| Factors Viii, Ix And Xi, Combined Deficiency Of |
|
Joint hemorrhage, Joint dislocation, Ecchymosis, Bruising susceptibility |
OMIM:134520 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... |
ORPHA:488650 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Growth delay, Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Increase... |
ORPHA:2088 |
| Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Diarrhea, Increased proportion of CD25+ mast cells, Osteolysis, Pancytopenia, G... |
ORPHA:98850 |
| Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Rickets |
OMIM:615605 |
| Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Hypoproteinemia, Bruising susceptibility, Abdominal pain, Leukope... |
ORPHA:99828 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... |
OMIM:609052 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... |
OMIM:619658 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
| Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Hypocalcemia, Short stature, Short 5th finger, Hypoplasia of the capital f... |
ORPHA:557003 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short stature, Anemia, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
| Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Osteomala... |
OMIM:134600 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Hy... |
OMIM:144300 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wing, Craniosynostosis, Red... |
ORPHA:89936 |
| Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s... |
OMIM:156530 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint laxity, Increased su... |
OMIM:130060 |
| Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Lymphangioma, Enlarged kidney, Abnormal humerus morphology, Oste... |
ORPHA:464329 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses |
OMIM:264010 |
| Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, S... |
OMIM:610967 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Osteomyelitis, Hypocalcemia, Alopecia, Short stature, Abnormality of the lymph... |
ORPHA:47 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Hip dislocation, Hip subluxation, Osteoporosis |
OMIM:256720 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... |
OMIM:308990 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614882 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Short stature, Elevated circulating parathyroid hormone level, Short neck, Brachydacty... |
OMIM:103580 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Pulmonary embolism, Prolonged bleeding time, Microcytic anemia,... |
ORPHA:90308 |
| Dysequilibrium Syndrome |
|
Gait disturbance, Cerebral palsy, Ataxia, Cataract |
ORPHA:1766 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, Accelerated skeletal ma... |
ORPHA:175 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Hypocalcemia |
OMIM:615361 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:94090 |
| 2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Long eyelashes, Hypogonadism, Growt... |
ORPHA:163693 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
| Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating parathyroid hormone level, Short neck, Brachydactyly, Osteopo... |
OMIM:612462 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Coxa vara, Coxa valga, Osteopenia, Osteomalacia, Osteoporosis, Avascular necrosi... |
ORPHA:1901 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... |
ORPHA:251004 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Wrist pain, Abnormality of the vertebral column, Hypercalcemia, Delayed skeletal maturation, Coxa... |
OMIM:191420 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Cataract |
ORPHA:2815 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Severe intrauterine growth retardation, Spinal canal stenosis, Hypocalcemia, ... |
ORPHA:2323 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Hypocalcemia, Severe short stature, Increased bone mineral density, Short sta... |
OMIM:127000 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... |
ORPHA:93314 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Growth delay, Retinal telangiectasia, Osteopenia, Esophageal varix, Portal hypertension, Pancytop... |
OMIM:617341 |
| Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Severe short stature, Osteopenia, Scoliosis, Biconcave vertebral bodies, Rhi... |
OMIM:301014 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... |
OMIM:300555 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Diarrhea, Hypertriglyceridemia, Esophageal varix, Hypercholesterol... |
ORPHA:75234 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Intervertebral space n... |
ORPHA:166011 |
| Metatropic Dysplasia |
|
Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the... |
ORPHA:2635 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cataract, Limb ataxia |
OMIM:617133 |
| Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Short stature, Hypercalcemia, Bowing of the long bones, Ab... |
ORPHA:436 |
| Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Pathologic fracture |
OMIM:614569 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Calvarial hyperostosis, Short stature, Elevated circulatin... |
ORPHA:52430 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Petechiae, Bruising susceptibility, Congenital thrombocytopenia, Decreased mean... |
OMIM:313900 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Sparse hair, Sparse eyebrow, Craniosynostosis, Osteopenia, Bullet-shaped phalanges ... |
OMIM:252500 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... |
ORPHA:970 |
| Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Esophageal varix, Splenomegaly, Decreased HDL c... |
OMIM:278000 |
| Hypophosphatemic Rickets |
|
Periapical tooth abscess, Elevated circulating parathyroid hormone level, Hypocalciuria, Enthesit... |
ORPHA:437 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis, Decreased circulating apolipoprotein AI concentration,... |
OMIM:620058 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... |
OMIM:146200 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... |
ORPHA:853 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Splenomegaly, Abnormal bleeding, Osteoporosis, Gastrointestinal... |
ORPHA:79301 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... |
ORPHA:1159 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Renal hypophosphatemia, Enthesitis, Sclerotic vertebral endplates, Rickets of t... |
ORPHA:289176 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Short stature, Glycosuria, Large for gestational a... |
OMIM:616026 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropath... |
OMIM:615863 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Calcium nephrolithia... |
ORPHA:36913 |
| Majeed Syndrome |
|
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Hepatomegaly, Increased bone mineral ... |
ORPHA:77297 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Short stature,... |
ORPHA:2410 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Scler... |
OMIM:611490 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature... |
ORPHA:3409 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract, Joint hyperflexibility |
ORPHA:35664 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
| Ollier Disease |
|
Bone pain, Joint stiffness, Lymphangioma, Precocious puberty, Platyspondyly, Osteolysis, Abnormal... |
ORPHA:296 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypercholesterol... |
OMIM:603813 |
| Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short neck, Short... |
ORPHA:79444 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Recurrent fractures, Increased spinal bone density, Gait disturbance, Spastic gait, Bone pain |
ORPHA:329475 |
| Erythrocytosis, Familial, 2 |
|
Failure to thrive, Stroke, Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red ... |
OMIM:263400 |
| H Syndrome |
|
Hypertrichosis, Alopecia, Enlarged kidney, Osteolysis, Hypogonadism, Delayed skeletal maturation,... |
ORPHA:168569 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Abnormal femoral neck/head morphology, Short stature, Osteopenia, Metaphyseal... |
ORPHA:2788 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Joint stiffness, Delayed ossification of carpal bones, Retinal detachment, Short phalanx of finge... |
OMIM:127200 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
| Blue Rubber Bleb Nevus |
|
Arteriovenous malformation, Intestinal bleeding, Microcytic anemia, Gastrointestinal infarctions,... |
ORPHA:1059 |
| Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth... |
ORPHA:85198 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Ataxia, Hypocalcemia, Osteopetrosis, Metaphyseal widening, Platyspondyly |
OMIM:618476 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Stage 3 chronic kidney disease, Enure... |
OMIM:619743 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Short stature, Abnormality of the uri... |
ORPHA:2204 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur,... |
OMIM:602080 |
| Temple Syndrome |
|
Intrauterine growth retardation, Joint hypermobility, Feeding difficulties, Small for gestational... |
OMIM:616222 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding following circumcision, Bruising susceptibility, Menorrhagia, Prolonged bleedi... |
ORPHA:849 |
| Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis |
ORPHA:101041 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular f... |
OMIM:618728 |
| Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis |
ORPHA:98881 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Short stature, Small for gestational age, Increased urinary glycerol, Oste... |
OMIM:307030 |
| Polymyositis |
|
Abnormal muscle fiber morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Anorexia... |
ORPHA:732 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... |
OMIM:618883 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Anorexia, Cerebral ischemia, Vasculitis, Arthritis, Myocardial infar... |
ORPHA:3287 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Tremor, Optic disc pallor, Cataract, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Achondrogenesis Type 2 |
|
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, H... |
ORPHA:93296 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Short stature, Osteopenia,... |
ORPHA:319195 |
| Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... |
OMIM:203330 |
| Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Arthrit... |
ORPHA:85446 |
| Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short neck, Short... |
ORPHA:79443 |
| Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Short stature, Osteopenia, Femoral bowing, Scoliosis, Increased susceptibili... |
OMIM:615066 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Abnormal bleeding, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Disproportionate short-limb short stature, Kyphosis, Decreased calvarial oss... |
OMIM:259440 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Anemia, Dilated cardiomyopathy |
OMIM:611283 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy, Hyperparathyroidism, ... |
ORPHA:2668 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
| Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... |
ORPHA:891 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Short distal phalanx of finger, Renal hypophosphatemia |
OMIM:241519 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Accelerated skeletal maturation, Elevated circulating parathyroid hormone level, Cone-shaped epip... |
ORPHA:280651 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Mild postnat... |
OMIM:101800 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Short stature, Platyspondyly, Abnormal ilium morphology, Disproportionate short-trunk short statu... |
ORPHA:163665 |
| Maffucci Syndrome |
|
Bone pain, Recurrent fractures, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Short s... |
ORPHA:163634 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Severe short stature, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormal... |
ORPHA:2619 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Absence of alpha granules, Bruising susceptibility, Abnormal bleeding, Prolonged bleed... |
OMIM:187900 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Hepatomegaly, Lumbar hyperl... |
OMIM:602557 |
| Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, Intussusception, Abdominal pain, Abno... |
ORPHA:79076 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Abdominal pain, Nausea and vomiting, Weight loss, Hypercalcemia, Internal ... |
ORPHA:69077 |
| Gaisböck Syndrome |
|
Angina pectoris, Stroke, Gout, Increased circulating renin level, Myocardial infarction, Hyperuri... |
ORPHA:90041 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Hematochezia, Thrombocytopenia, Osteolysis, Gastrointestinal hemorrhage, Osteolysis invol... |
ORPHA:464321 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Gastrointestinal he... |
ORPHA:85450 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stature, Platyspondyly, Bro... |
OMIM:609324 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Flexion contracture, Difficulty walking, Cataract, Spasticity |
OMIM:617393 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Clinodactyly of the 5th finger, Reduced bone mineral density, Brachydactyly, Abn... |
ORPHA:2370 |
| Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Severe short-limb dwarfism, Abnormal bone ossification, Anterior r... |
ORPHA:1426 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Splenomegaly, Short stature, Increased total bilirubin, Conjugated hyperbiliru... |
OMIM:619868 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Short stature, Dec... |
OMIM:607616 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Bruising susceptibility, Hemothorax, Persistent bleeding after trauma |
OMIM:262850 |
| Burkitt Lymphoma |
|
Abdominal pain, Abnormality of the spleen, Intestinal obstruction, Decreased proportion of CD4-po... |
ORPHA:543 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Coombs-positive hemolytic anemia... |
OMIM:603909 |
| Hyperparathyroidism 4 |
|
Nephrolithiasis, Parathyroid carcinoma, Osteopenia, Primary hyperparathyroidism, Hypercalcemia |
OMIM:617343 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Stroke, Bruising susceptibility... |
ORPHA:729 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Osteopetr... |
OMIM:259720 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bone pain, Recurrent fractures, Growth delay, Abnormality of hair texture, Hepatomegaly, Hypophos... |
ORPHA:667 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
| Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Leukocytosis, Left ventricular hypertrophy, Vomiting,... |
ORPHA:90065 |
| Progressive Pseudorheumatoid Dysplasia |
|
Joint stiffness, Coxa vara, Kyphoscoliosis, Joint contracture of the hand, Enlarged metacarpophal... |
OMIM:208230 |
| Diaphanospondylodysostosis |
|
Vertebral segmentation defect, Unossified sacrum, Nephrogenic rest, Tracheomalacia, Abnormal live... |
OMIM:608022 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Bruising susceptibility, Arrhythmia, Joint hypermobility, Gastrointestinal hemorrhage, Sk... |
ORPHA:230839 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
| Celiac Disease, Susceptibility To, 1 |
|
Thyroiditis, Ataxia, Hypocalcemia, Failure to thrive, Alopecia, Short stature, Osteoporosis, Iron... |
OMIM:212750 |
| Parathyroid Carcinoma |
|
Pancreatitis, Elevated circulating parathyroid hormone level, Weight loss, Nephrolithiasis, Thyro... |
ORPHA:143 |
| Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Hypocalcemia, Cachexia, Short neck, Tapered finger, Sandal gap, Intraut... |
ORPHA:1438 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Stroke, Constrictive pericarditis |
OMIM:602248 |
| Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Genu valgum, Proteinuria,... |
OMIM:219800 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... |
OMIM:619398 |
| Eosinophilic Gastroenteritis |
|
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... |
ORPHA:2070 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
| Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Arteriovenous malformation, Hepatic failure, Subarachnoid hemorrhage,... |
ORPHA:774 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Short stature, Platy... |
OMIM:604864 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... |
OMIM:166600 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Osteopenia, Hematuria, Osteolysis, Proteinuria, Pancytopenia, Delayed skeletal matu... |
ORPHA:77259 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Recurrent fractures, Failure to thrive, Kyphosis, Increased bone mineral densi... |
OMIM:239000 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... |
OMIM:613673 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Hyperphosphatemia, P... |
ORPHA:2239 |
| Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... |
OMIM:606407 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... |
ORPHA:166277 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Recurrent fractures, 2-3 toe syndactyly, Osteopenia, Fine hair, Postnatal grow... |
ORPHA:2324 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Broad hallux |
OMIM:615923 |
| Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones, B... |
OMIM:174810 |
| Bruck Syndrome 2 |
|
Hydroxyprolinuria, Flexion contracture, Short stature, Osteopenia, Femoral bowing, Platyspondyly,... |
OMIM:609220 |
| Dysbetalipoproteinemia |
|
Angina pectoris, Peripheral arterial stenosis, Premature coronary artery atherosclerosis, Increas... |
ORPHA:412 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Decreased prealbumin level, Type I diabetes mellitus, Failure to thrive in infancy, Abn... |
ORPHA:37042 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Recurrent fractures, Epiphyseal dysplasia, Short stature, Coarse hair, Osteoporosis, Joint laxity |
OMIM:248010 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly, Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
| Caffey Disease |
|
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... |
OMIM:166260 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... |
OMIM:616583 |
| Van Buchem Disease |
|
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Cranial hyperostosi... |
OMIM:239100 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Abnormal bleeding, Leukopenia, Hepatocellular carcinoma, Gastri... |
ORPHA:64743 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Diarrhea, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating g... |
ORPHA:247598 |
| Lysosomal Acid Lipase Deficiency |
|
Stroke, Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Esophageal varix, Weight loss, Feeding ... |
ORPHA:275761 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Lymphangioma, Abnorma... |
ORPHA:73 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis |
OMIM:616176 |
| Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Osteomalacia, Glycos... |
OMIM:227810 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Post-partum hemorrhage, Short stat... |
ORPHA:98870 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormality of the parathyroid morphology, Nephrolithiasis, Hypophosphatemia, Pancreatitis, Thyro... |
ORPHA:99880 |
| Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... |
ORPHA:209964 |
| Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Kyphoscoliosis, Short stature, Osteopenia, Scoliosis, Biconcave vertebral bodies, Prot... |
OMIM:610968 |
| Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Hyperparathyroidism, Anemia |
OMIM:618107 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Nail dystrophy, Clubbing of finger... |
OMIM:175500 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Platyspondyly, Small epiphy... |
OMIM:184260 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Butterfly vertebrae, Micropenis, Hypoplasia of the radius, Hypos... |
OMIM:607143 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Short distal phalanx of finger, Generalized hirsutism, Hypocalcemia, Short st... |
ORPHA:1563 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... |
ORPHA:93325 |
| Primary Fanconi Renotubular Syndrome |
|
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... |
ORPHA:3337 |
| Mantle Cell Lymphoma |
|
Anorexia, Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Disproportionate short-limb short stature, Short metacarpal, Osteoarthritis, Platyspon... |
ORPHA:93351 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n... |
OMIM:184252 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Stroke, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Hyperten... |
OMIM:615812 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Tapered finger, Enlarged kidney, Elevated circulating creatinine concentration, Car... |
OMIM:608836 |
| Al Amyloidosis |
|
Abnormal P wave, Jaw claudication, Bruising susceptibility, Abdominal distention, Macroglossia, I... |
ORPHA:85443 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Wide anterior fontanel, Tibial bowing, Disproportionate short-limb short sta... |
OMIM:259420 |
| Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Hepatosplenomegaly, Limb... |
ORPHA:263501 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Glycosuria, Hypoplastic spleen, Proteinu... |
ORPHA:699 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... |
ORPHA:1525 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... |
OMIM:183849 |
| Opsismodysplasia |
|
Renal phosphate wasting, Disproportionate short-limb short stature, Hypophosphatemia, Metaphyseal... |
OMIM:258480 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Sparse hair, Metaphyseal sclerosis, Short stature, Osteopenia, Scoliosis, Osteoporosis, S... |
OMIM:612199 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Flared metaphysis, Platyspondyly, Short middle phalanx of t... |
OMIM:156510 |
| Adamantinoma |
|
Bone pain, Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
| Multiple Myeloma |
|
Bone pain, Nephrotic syndrome, Splenomegaly, Osteopenia, Hyperproteinemia, Nephropathy, Pathologi... |
ORPHA:29073 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Hyp... |
OMIM:617994 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Bone cyst, Abnormality of the kidney, Osteolysis, Hypercalcemia, Abnorm... |
ORPHA:2591 |
| Neu-Laxova Syndrome |
|
Flexion contracture, Opisthotonus, Osteopenia, Osteomalacia, Osteoporosis, Micromelia, Large hand... |
ORPHA:2671 |
| Bernard-Soulier Syndrome |
|
Petechiae, Hematemesis, Bruising susceptibility, Prolonged bleeding after dental extraction, Abno... |
ORPHA:274 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Abn... |
ORPHA:457059 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Finger joint hypermobility, Osteopenia, Py... |
ORPHA:363705 |
| Wilson Disease |
|
Bone pain, Failure to thrive, Hepatomegaly, Acute hepatitis, Back pain, Splenomegaly, Cirrhosis, ... |
ORPHA:905 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hirs... |
ORPHA:189427 |
| Juvenile Nephropathic Cystinosis |
|
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Del... |
ORPHA:411634 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Short stat... |
ORPHA:2238 |
| Dysplasia Epiphysealis Hemimelica |
|
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... |
ORPHA:1822 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Short stature, Short neck, Abnormal form of th... |
ORPHA:1486 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
| Whipple Disease |
|
Malabsorption, Abdominal pain, Splenomegaly, Anemia, Anorexia, Cachexia, Diarrhea, Myositis, Hypo... |
ORPHA:3452 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Hip dislocation, Cataract, Spasticity, Arthrogryposis multiplex congenita |
OMIM:212540 |
| Idiopathic Achalasia |
|
Gastroesophageal reflux, Decreased prealbumin level, Malnutrition, Dysphagia, Weight loss |
ORPHA:930 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypertrichosis, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary ... |
OMIM:235255 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypertrichosis, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary ... |
ORPHA:1655 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hypo... |
OMIM:246700 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Reduced bone mineral density, Babinski sign, Spastic paraplegia, Tremor, Gait distu... |
ORPHA:83629 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... |
OMIM:614500 |
| Mycetoma |
|
Osteomyelitis, Bone cyst, Back pain, Abnormality of the lymphatic system, Osteoporosis, Pathologi... |
ORPHA:2583 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Short stature, Platyspondyly, Scoliosis, Osteopor... |
ORPHA:2771 |
| Geroderma Osteodysplastica |
|
Recurrent fractures, Growth delay, Abnormal bone ossification, Severe short stature, Beaking of v... |
ORPHA:2078 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Abdominal pain, Stomach cance... |
ORPHA:2869 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Joint dislocation, Anemia, Diarrhea, Rhizomelia, Weight loss, Patent ductus ar... |
ORPHA:1842 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum, Proportionate short statu... |
OMIM:608361 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... |
ORPHA:157965 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Osteopenia, Optic atrophy, Tremor, Gait ataxia, Spasticity, Apraxia |
OMIM:617810 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Secondary hyperparathyroidism, Recurrent fractures, Nephrolithiasis, Hypocalcemia, Hepatomegaly, ... |
ORPHA:2785 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adenoma, Enlarged kidney, Proteinuri... |
ORPHA:79259 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Short stature, Hypopigmentation of hair, Platyspondyly, Osteoporosis, Albinism |
ORPHA:2786 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Spondylometaphyseal Dysplasia, Axial |
|
Coxa vara, Narrow greater sciatic notch, Splenomegaly, Short stature, Platyspondyly, Scoliosis, S... |
OMIM:602271 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Coxa vara, Biconcave vertebral bodies, Protrusio acetabuli, Joint la... |
OMIM:613982 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn... |
ORPHA:1306 |
| Wolman Disease |
|
Abdominal distention, Steatorrhea, Splenomegaly, Hepatic failure, Cachexia, Esophageal varix, Mal... |
ORPHA:75233 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Postnatal growth retardation, Joint hypermobility, Feeding difficulties, Hypercholesterolemia, Ob... |
ORPHA:254531 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis |
OMIM:606777 |
| Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
| Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Constipation, Hypercholesterolemia |
OMIM:301033 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Short neck, Platyspondyly, Long eyelashes in irregular rows, Anterior... |
OMIM:255800 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat... |
ORPHA:90362 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis, Paresis of extensor muscles of the big toe |
OMIM:158590 |
| Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, S... |
OMIM:231070 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Growth delay, Abdominal pain, Peritonitis, Diarrhea, Vasculitis, Arthritis, Intestinal obstructio... |
ORPHA:343 |
| Infantile Systemic Hyalinosis |
|
Recurrent fractures, Joint stiffness, Failure to thrive, Severe short stature, Osteopenia, Campto... |
ORPHA:2176 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... |
OMIM:601668 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Splenomegaly, Short stature, Elevated circulating creatine kinas... |
ORPHA:264580 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hyperextensibility of t... |
OMIM:313420 |
| Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Lateral humeral condyle aplasia, Camptodactyly of finger, Megalocornea, Synostos... |
ORPHA:2741 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Decreased circulating ceruloplasmin concentration, Increased LDL choles... |
OMIM:616829 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Sclerosis of skull base, Abnormal metaphyseal trabeculation, Short... |
OMIM:224300 |
| Occipital Horn Syndrome |
|
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality of ... |
ORPHA:198 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal... |
ORPHA:97290 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614876 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Abdominal pain, Splenomegaly, Reduced bone mineral density, Portal hypertension, ... |
ORPHA:1414 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Platyspondyly, Hematuria, Gen... |
ORPHA:534 |
| Mucolipidosis Type Iii |
|
Joint stiffness, Corneal opacity, Large iliac wing, Abnormal hip bone morphology, Reduced bone mi... |
ORPHA:577 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Gait disturbance, Osteopenia, Bone cyst, Pathologic fracture |
OMIM:618193 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon... |
ORPHA:85435 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, ... |
OMIM:226980 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... |
OMIM:259710 |
| Martsolf Syndrome 2 |
|
Overlapping toe, Spastic diplegia, Camptodactyly of finger, Camptodactyly, Cataract, Developmenta... |
OMIM:619420 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Bone pain, Recurrent fractures, Abnormality of the lymph nodes, Chronic noninfectious lymphadenop... |
ORPHA:319487 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Myoclonus, Pa... |
OMIM:204200 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Eleva... |
OMIM:616828 |
| Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Short stature, Truncal obesity, Hypercholesterolemia |
ORPHA:181393 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrichosis, Inability to walk, Short neck, Heparan sulfate excretion in urine, Enlarged kidne... |
ORPHA:505248 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Difficulty walking, Hyperphosphatemi... |
ORPHA:99845 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
| Pycnodysostosis |
|
Rhizomelia, Intrauterine growth retardation, Disproportionate short-limb short stature, Spondylol... |
ORPHA:763 |
| Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Diarrhea, Vomiting, Protein-losing enteropathy, Hypo... |
ORPHA:79319 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Talipes equinovarus, Paralysis |
OMIM:613710 |
| Juvenile Paget Disease |
|
Recurrent fractures, Short stature, Osteoporosis, Hyperuricemia, Bowing of the long bones, Coarse... |
ORPHA:2801 |
| Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Grade II v... |
OMIM:619377 |
| Tyrosinemia, Type I |
|
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprote... |
OMIM:276700 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Severe short stature, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, ... |
OMIM:126550 |
| Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa vara, Bowing of the legs, Disproportionate short-limb short stature, Bo... |
OMIM:619131 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Disproportionate short-limb short stature, Lumbar hyperlordosis, Metaphyseal ... |
OMIM:608728 |
| Chylomicron Retention Disease |
|
Failure to thrive, Abdominal distention, Steatorrhea, EMG: myopathic abnormalities, Diarrhea, Vom... |
ORPHA:71 |
| Rhyns Syndrome |
|
Rod-cone dystrophy, Osteopenia, Hypoplastic ilia, Abnormal long bone morphology, Abnormal acetabu... |
ORPHA:140976 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Postnatal growth retardation, Splenomegaly, Short stature, Elevated circulating creatine kinase c... |
ORPHA:79240 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Ataxia, Hep... |
OMIM:256810 |
| Waldenström Macroglobulinemia |
|
Malabsorption, Stroke, Splenomegaly, Anorexia, Diarrhea, Normocytic anemia, Retinal hemorrhage, V... |
ORPHA:33226 |
| Typhoid |
|
Cardiac arrest, Constipation, Abdominal pain, Splenomegaly, Diarrhea, Arrhythmia, Gastrointestina... |
ORPHA:99745 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hirs... |
ORPHA:189439 |
| Congenital Disorder Of Glycosylation, Type Iin |
|
Inability to walk, Craniosynostosis, Osteopenia, Astigmatism, Joint hypermobility |
OMIM:616721 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture, Bo... |
ORPHA:85193 |
| Transaldolase Deficiency |
|
Telangiectasia, Hepatosplenomegaly, Coarctation of aorta, Abnormal circulating glutamine concentr... |
ORPHA:101028 |
| Timothy Syndrome |
|
Hypocalcemia, Cutaneous syndactyly, Syndactyly, Hypothyroidism, Cardiomegaly |
OMIM:601005 |
| Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... |
OMIM:619489 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Failure to thrive, Metaphyseal dysplasia, Kyphosis, Platyspondyly,... |
OMIM:234250 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Raynaud phenomenon, Hypertension, Weakness of facial musculature, Retinal neovascularization, Nor... |
ORPHA:247691 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Kyphosis, Femoral bowing present at birth, straightening with time, Reduced ... |
OMIM:166220 |
| Kniest Dysplasia |
|
Short neck, Platyspondyly, Disproportionate short-trunk short stature, Hypoplastic pelvis, Rhizom... |
OMIM:156550 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Coarse hair, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, ... |
OMIM:242900 |
| Ck Syndrome |
|
Slender build, Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility... |
OMIM:300831 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Osteopenia, Abnormality of the pubic bone, Micromelia, Spasticity,... |
ORPHA:2636 |
| Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Sea-blue histiocytosis, Ataxia, Hepatomegaly, Failure to thrive, Beaking of vert... |
OMIM:230600 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Ebola Hemorrhagic Fever |
|
Melena, Lymphopenia, Abdominal pain, Abnormal bleeding, Leukopenia, Diarrhea, Vomiting, Nausea, D... |
ORPHA:319218 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Inflammation of the large i... |
ORPHA:324964 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the rectum, Constipation, Gastrointestina... |
ORPHA:44890 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Limb-girdle muscle weakness, Splenomegaly, Elevated circulating creatine kinas... |
ORPHA:370 |
| Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Limitation of joint mobility, M... |
ORPHA:93672 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Craniosynostosis, Osteopenia, Eosinophilia, Scoliosis, Joint hypermobility, ... |
OMIM:147060 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... |
OMIM:612350 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Generalized hirsutism, Accelerated skeletal maturation, Reduced bone mineral d... |
ORPHA:561 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Recurrent fractures, Hypophosphatemic rickets, Precocious puberty, Abnormality of finger, Abnorma... |
OMIM:163200 |
| Dyssegmental Dysplasia With Glaucoma |
|
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Short stature, Flared m... |
OMIM:601561 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Persistence of hemoglobin F... |
OMIM:612561 |
| Cryoglobulinemic Vasculitis |
|
Petechiae, Abdominal pain, Splenomegaly, Vasculitis, Arthritis, Gastrointestinal infarctions, Pur... |
ORPHA:91138 |
| Dyggve-Melchior-Clausen Disease |
|
Inability to walk, Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femor... |
ORPHA:239 |
| Hypervitaminosis A, Susceptibility To |
|
Lower limb pain, Alopecia totalis, Renal insufficiency, Hypercalcemia, Abnormality of the liver |
OMIM:240150 |
| Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Hepatic amyloidosis, Wrist pain, Arthralgia of the hip, Abnormal salivary... |
ORPHA:314652 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Constipation, Abnormal bleeding, Tachycardi... |
ORPHA:35858 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... |
ORPHA:391665 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Intention tremor, Camptodactyly of finger, Abnormal pyramidal sign, Osteoporos... |
ORPHA:48431 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... |
ORPHA:1782 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Intermittent claudication, Mitral stenosis, Stroke, Restrictive cardiomyopathy, ... |
OMIM:264800 |
| Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:615382 |
