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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BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Neutrophil Actin Dysfunction |
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Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 31B |
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Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Axial Osteomalacia |
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Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia |
OMIM:109130 |
Aicardi-Goutieres Syndrome 6 |
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Increased circulating Interferon-alpha concentration |
OMIM:615010 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Hypophosphatasia, Adult |
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Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... |
OMIM:146300 |
Hypophosphatemic Bone Disease |
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Hypophosphatemia, Rickets, Osteomalacia |
OMIM:146350 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... |
ORPHA:93160 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... |
OMIM:600785 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia, Recurrent fractures |
OMIM:613388 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Ingui... |
ORPHA:1901 |
Renal Tubular Acidosis, Proximal |
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Elevated circulating creatinine concentration, Rickets, Osteomalacia |
OMIM:179830 |
Bile Acid Conjugation Defect 1 |
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Rickets, Conjugated hyperbilirubinemia |
OMIM:619232 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... |
ORPHA:157215 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Hypophosphatemia, Fasting hypoglycem... |
ORPHA:2088 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Hypouricemia, Rickets, Glycosuria, Osteomalacia, Hyperbilirubinemia, ... |
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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Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus |
OMIM:616026 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:600081 |
Renal Tubular Acidosis, Distal, 1 |
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Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... |
OMIM:179800 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... |
OMIM:300554 |
Renal Tubular Acidosis Iii |
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Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Fanconi Renotubular Syndrome 3 |
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Elevated circulating creatinine concentration, Rickets, Glycosuria |
OMIM:615605 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... |
OMIM:241530 |
Fanconi Renotubular Syndrome 1 |
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Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:264700 |
Dent Disease 1 |
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Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Sparse bone trabeculae, Hypop... |
OMIM:300009 |
Aicardi-Goutieres Syndrome 5 |
|
Increased circulating interferon-gamma concentration |
OMIM:612952 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Enamel hypopl... |
OMIM:277440 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypokalemia, Rickets |
OMIM:602722 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Rickets, Osteomalacia, Hypophosphatemic rickets, Enamel hypomineralization, Hypophosphatemia, Ost... |
OMIM:307800 |
Dent Disease |
|
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Glycosuria, Osteomalacia, Spars... |
ORPHA:1652 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Osteoporosis, Type I diabetes mellitus, Rickets |
OMIM:560000 |
Cystinosis |
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Hypokalemia, Type I diabetes mellitus, Hypophosphatemia, Rickets |
ORPHA:213 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Osteopenia, Rickets, Conjugated hyperbilirubinemia |
OMIM:211600 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating renin level |
OMIM:605115 |
Fibrous Dysplasia Of Bone |
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Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Hypercalcemia, Fibrous dysplas... |
ORPHA:249 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed epiphyseal ossification, Rickets, Osteomalacia, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hypokalemia, Rickets |
OMIM:611590 |
Liddle Syndrome 2 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:542323 |
Hyperaldosteronism, Familial, Type I |
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Decreased circulating renin level |
OMIM:103900 |
Liddle Syndrome 1 |
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Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:158061 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
Developmental And Epileptic Encephalopathy 68 |
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Flexion contracture, Exaggerated startle response |
OMIM:618201 |
Pseudohypoaldosteronism, Type Iic |
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Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Apparent Mineralocorticoid Excess |
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Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Stiff Person Spectrum Disorder |
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Diabetes mellitus, Exaggerated startle response |
ORPHA:3198 |
Infantile Systemic Hyalinosis |
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Osteopenia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased susceptibility to f... |
ORPHA:2176 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... |
ORPHA:289176 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hypocholesterolemia, Rickets, Conjugated hyperbilirubinemia |
OMIM:607765 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia |
ORPHA:79303 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:540 |
Wilson Disease |
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Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Glycosuria, Hand tremor, Osteomalacia, Hyperbil... |
OMIM:277900 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemia, Hypercalcemia, Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Celiac Disease, Susceptibility To, 1 |
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Type I diabetes mellitus, Rickets, Hypocalcemia, Enamel hypoplasia, Osteoporosis |
OMIM:212750 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Glycosuria, Rickets, Recurrent fractures |
OMIM:268315 |
X-Linked Hypophosphatemia |
|
Cellulitis, Limitation of joint mobility, Rickets, Generalized osteosclerosis, Hypophosphatemia, ... |
ORPHA:89936 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration |
ORPHA:85410 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Laryngeal dystonia, Limited elbow extension, Tremor, Limited... |
ORPHA:845 |
Stiff-Person Syndrome |
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Opisthotonus, Diabetes mellitus, Exaggerated startle response |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Flexion contracture, Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
Glycine Encephalopathy With Normal Serum Glycine |
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Elbow flexion contracture, Hip contracture, Joint hypermobility, Exaggerated startle response, Fl... |
OMIM:617301 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Hypokalemia, Athetosis, Decreased circulating renin level |
OMIM:615474 |
Neu-Laxova Syndrome |
|
Osteopenia, Rickets, Osteomalacia, Opisthotonus, Osteoporosis, Flexion contracture, Arthrogryposi... |
ORPHA:2671 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
Hyperaldosteronism, Familial, Type Iii |
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Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Flexion contracture, Exaggerated startle response, Elevated circulating creatine kinase concentra... |
OMIM:253800 |
Hyperekplexia 2 |
|
Hiatus hernia, Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
|
Hiatus hernia, Exaggerated startle response |
OMIM:614618 |
Mccune-Albright Syndrome |
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Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones,... |
ORPHA:562 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Exaggerated startle response |
OMIM:616881 |
Hyperekplexia 1 |
|
Umbilical hernia, Inguinal hernia, Exaggerated startle response |
OMIM:149400 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra... |
OMIM:301220 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Osteopenia, Rickets, Hypoglycemia, Hypocalcemia, Inguinal hernia, Joint hypermob... |
OMIM:613658 |
Lowe Oculocerebrorenal Syndrome |
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Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Rickets, Campt... |
OMIM:309000 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Lipoma, Hypocalcemic se... |
ORPHA:405 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac... |
ORPHA:3337 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Tremor, Exaggerated startle response |
OMIM:620327 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Panhypogammaglobulinemia, Abnormal circulating interleukin concentration, Abnormal circulating in... |
ORPHA:79124 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Primary Unilateral Adrenal Hyperplasia |
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Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Exaggerated startle response, Dystonia, Hypernatremia |
OMIM:620423 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Hyperprolinemia, Hyperalaninemia, Hypoglycemia, Exaggerated startle response |
OMIM:620451 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
Infantile Nephropathic Cystinosis |
|
Rickets, Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration |
ORPHA:411629 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Joint contracture, Exaggerated startle response |
OMIM:617864 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Occipital Horn Syndrome |
|
Synostosis of joints, Osteopenia, Atypical scarring of skin, Keloids, Rickets, Osteomalacia, Ingu... |
ORPHA:198 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Abnormal circulating interferon concentration, Incr... |
ORPHA:544482 |
Distal Renal Tubular Acidosis |
|
Rickets, Osteomalacia, Increased susceptibility to fractures, Hypokalemia, Reduced bone mineral d... |
ORPHA:18 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Contractures of the large joints, Exaggerated startle response, Hyperextensibility of t... |
ORPHA:521426 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Rickets, Glycosuria, Hypomagnesemia, Hypophosphate... |
OMIM:219800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Osteomalacia, Abnormal dental enamel morphology, Umbilical hernia, Joi... |
ORPHA:534 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo... |
OMIM:248250 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Asparagine Synthetase Deficiency |
|
Hypoasparaginemia, Tremor, Exaggerated startle response |
OMIM:615574 |
Peripartum Cardiomyopathy |
|
Increased circulating interferon-gamma concentration |
ORPHA:563 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Rickets, Osteomalacia |
ORPHA:309031 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Exaggerated startle response |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal odontoid tissue morphology, Exaggerated startle response |
ORPHA:79255 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Arthritis, Elevated circulating C-reactive protein ... |
OMIM:619381 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae |
ORPHA:2636 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal circulating interferon-gamma concentration |
ORPHA:391487 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Hypoglycemia, Carpal synostosis, Humeroradial synostosis, Decrease... |
OMIM:201750 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... |
OMIM:256040 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Decreased circulating iron concentration, Uterine prolapse, Joint hypermobility, Exag... |
ORPHA:438213 |
Aicardi-Goutières Syndrome |
|
Increased circulating interferon-gamma concentration |
ORPHA:51 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... |
ORPHA:51608 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Joint hypermobility |
OMIM:619522 |