Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Hypercholanemia, Familial 1 |
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Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Retinal dystrophy, Elevated circulating phytanic acid concentration, Osteoporo... |
OMIM:266510 |
Chylomicron Retention Disease |
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Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Osteopenia, Hypocholesterolemia |
OMIM:610539 |
Hypophosphatemic Bone Disease |
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Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Squalene Synthase Deficiency |
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Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol concentratio... |
OMIM:618156 |
Chylomicron Retention Disease |
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Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retinopathy |
ORPHA:71 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Retinal pigment epithelial mottling, Retinopathy, Rickets |
OMIM:219900 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Optic atrophy, R... |
OMIM:268315 |
Renal Tubular Acidosis Iii |
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Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Bile Acid Conjugation Defect 1 |
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Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Renal Tubular Acidosis, Distal, 1 |
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Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Pigmentary retinopathy, Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma... |
ORPHA:93160 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive, Rickets |
OMIM:211600 |
Potocki-Lupski Syndrome |
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Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Autosomal Dominant Hypophosphatemic Rickets |
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Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
Infantile Systemic Hyalinosis |
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Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:264700 |
Cystinosis |
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Rickets, Hypokalemia, Hypophosphatemia, Failure to thrive, Retinopathy |
ORPHA:213 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hypokalemia, Failure to thrive, Rickets |
OMIM:611590 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit... |
ORPHA:289157 |
Vitamin D-Dependent Rickets, Type 2A |
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Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Hyperbilirubinemi... |
ORPHA:79303 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Hypophosphatem... |
OMIM:307800 |
Fanconi Renotubular Syndrome 3 |
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Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Fanconi-Bickel Syndrome |
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Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to thrive |
ORPHA:2088 |
Fanconi Renotubular Syndrome 1 |
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Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Dent Disease 1 |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Hypercalcemia, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Osteolysi... |
ORPHA:249 |
Abetalipoproteinemia |
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Osteopenia, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Failure... |
ORPHA:14 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Large for gestational age, Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
Congenital Disorder Of Glycosylation, Type Ia |
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Osteopenia, Failure to thrive, Flexion contracture, Hypoalbuminemia, Steatorrhea, Rod-cone dystro... |
OMIM:212065 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteomalacia, Rickets, Osteoporosis, Weight loss, Steatorrhea |
ORPHA:309031 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased ... |
OMIM:227810 |
Mccune-Albright Syndrome |
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Osteomalacia, Monostotic fibrous dysplasia, Recurrent fractures, Fibrous dysplasia of the bones, ... |
ORPHA:562 |
Celiac Disease, Susceptibility To, 1 |
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Rickets, Osteoporosis, Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive |
OMIM:212750 |
Alg12-Cdg |
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Hyponatremia, Retinal detachment, Abnormal bone ossification, Hypoalbuminemia, Camptodactyly, Fai... |
ORPHA:79324 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Dent Disease |
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Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... |
ORPHA:1652 |
Infantile Nephropathic Cystinosis |
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Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,... |
ORPHA:411629 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... |
ORPHA:89936 |
Neu-Laxova Syndrome |
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Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Kaufman Oculocerebrofacial Syndrome |
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Optic disc pallor, Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Lowe Oculocerebrorenal Syndrome |
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Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... |
OMIM:309000 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... |
ORPHA:3337 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... |
ORPHA:18 |
Cystinosis, Nephropathic |
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Hyponatremia, Failure to thrive in infancy, Retinal pigment epithelial mottling, Rickets, Reduced... |
OMIM:219800 |
Wilson Disease |
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Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os... |
OMIM:277900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Hypoa... |
OMIM:613658 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Osteomalacia, Recurrent fractures, Joint st... |
ORPHA:534 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Dubowitz Syndrome |
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Rod-cone dystrophy, Hypocholesterolemia |
OMIM:223370 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Occipital Horn Syndrome |
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Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Smith-Lemli-Opitz Syndrome |
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Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, H... |
OMIM:270400 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Generalized Arterial Calcification Of Infancy |
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Choroidal neovascularization, Osteomalacia, Failure to thrive in infancy, Abnormal retinal artery... |
ORPHA:51608 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, ... |
OMIM:619381 |