Human Coronavirus Sensitivity |
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Susceptibility to coronavirus 229e |
OMIM:122460 |
Leishmaniasis, Tegumentary, Susceptibility To |
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Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Varicella, Severe Recurrent |
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Severe recurrent varicella |
OMIM:600670 |
Coxsackievirus B3 Susceptibility |
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Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
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Recurrent infections |
OMIM:215518 |
Immunodeficiency 30 |
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Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 31A |
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Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Neutrophil Actin Dysfunction |
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Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 31B |
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Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Hypophosphatemic Bone Disease |
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Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... |
ORPHA:93160 |
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 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:613388 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
Bile Acid Conjugation Defect 1 |
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Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
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 3 |
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Glycosuria, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Fanconi-Bickel Syndrome |
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Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... |
ORPHA:2088 |
Fanconi-Bickel Syndrome |
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Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco... |
OMIM:227810 |
Hypercholanemia, Familial 1 |
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Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Diabetes mellitus, Hypoglycemia, Hypouricemia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:616026 |
Renal Tubular Acidosis, Distal, 1 |
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Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Fanconi Renotubular Syndrome 1 |
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Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
Renal Tubular Acidosis Iii |
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Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Autosomal Dominant Hypophosphatemic Rickets |
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Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
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 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Dent Disease 1 |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... |
OMIM:300009 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit... |
ORPHA:289157 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypokalemia, Rickets |
OMIM:602722 |
Vitamin D-Dependent Rickets, Type 2A |
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Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Dent Disease |
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Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... |
ORPHA:1652 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Osteopenia, Rickets |
OMIM:211600 |
Cystinosis |
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Type I diabetes mellitus, Hypokalemia, Rickets, Hypophosphatemia |
ORPHA:213 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Type I diabetes mellitus, Osteoporosis, Rickets |
OMIM:560000 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones,... |
ORPHA:249 |
Wilson Disease |
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Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Osteomalacia, Tremor, ... |
OMIM:277900 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hypokalemia, Rickets |
OMIM:611590 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia, Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response, Flexion contracture |
OMIM:618201 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Rickets, Hypocholesterolemia |
OMIM:607765 |
Infantile Systemic Hyalinosis |
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Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Celiac Disease, Susceptibility To, 1 |
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Osteoporosis, Rickets, Hypocalcemia, Type I diabetes mellitus, Enamel hypoplasia |
OMIM:212750 |
X-Linked Hypophosphatemia |
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Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rickets, Recurrent fractures, Glycosuria |
OMIM:268315 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Stiff-Person Syndrome |
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Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response, Flexion contracture |
OMIM:609541 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... |
OMIM:309000 |
Glycine Encephalopathy With Normal Serum Glycine |
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Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... |
OMIM:617301 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
Neu-Laxova Syndrome |
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Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Opisthotonus, Arthrogryposi... |
ORPHA:2671 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Increased susceptibil... |
ORPHA:3337 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Flexion contracture, Elevated circulating creatine kinase concentra... |
OMIM:253800 |
Mccune-Albright Syndrome |
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Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
Hyperekplexia 2 |
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Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Hyperekplexia 3 |
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Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Hyperekplexia 1 |
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Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response, Joint contracture |
OMIM:616881 |
Tay-Sachs Disease |
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Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Limited knee... |
ORPHA:845 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Inguinal hernia, Hypoglycemia, Rickets, Reduced bone mineral density, H... |
OMIM:613658 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response, Limb joint contracture |
OMIM:620327 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Infantile Nephropathic Cystinosis |
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Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Glycosuria |
ORPHA:411629 |
Occipital Horn Syndrome |
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Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... |
ORPHA:198 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Joint contracture |
OMIM:617864 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... |
ORPHA:544482 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... |
ORPHA:18 |
Plaa-Associated Neurodevelopmental Disorder |
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Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... |
ORPHA:521426 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Cystinosis, Nephropathic |
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Hyponatremia, Diabetes mellitus, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Glycosur... |
OMIM:219800 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Inguinal hernia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness,... |
ORPHA:534 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Contractures of the large joints, Exaggerated startle response |
OMIM:617527 |
Sandhoff Disease |
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Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Hy... |
OMIM:619381 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Joint laxity, Exaggerated startle response, Decreased serum iron, Osteoporosis, Dysto... |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Generalized Arterial Calcification Of Infancy |
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Hypophosphatemic rickets, Fused cervical vertebrae, Osteomalacia, Abnormal calcification of the c... |
ORPHA:51608 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Joint hypermobility |
OMIM:619522 |