Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemia, Sensorineural hearing impairment, Hypophosphatemic rickets |
OMIM:241520 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... |
OMIM:616648 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... |
ORPHA:94090 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, EEG abnormality, Facial palsy, Sensorineural hearing impairm... |
OMIM:617519 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Pseudohypoparathyroidism, Type Ib |
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Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154275 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Focal dystonia, Tremor, Abnormal cochl... |
ORPHA:52368 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Hypocalcemia, Autosomal Dominant 1 |
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Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 3 |
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Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154276 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Hypophosphatemia |
OMIM:308990 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemia, Hypophosphatem... |
ORPHA:157215 |
Refractory Celiac Disease |
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Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:398063 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:145600 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, H... |
OMIM:619743 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Colchicine Poisoning |
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Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... |
ORPHA:31824 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Vitamin D-Dependent Rickets, Type 2A |
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Hypocalcemic seizures, Hypophosphatemia, Hearing impairment |
OMIM:277440 |
Abcd Syndrome |
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Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... |
OMIM:600501 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen |
ORPHA:94059 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hypophosphatemia, Hypercalcemia, Hearing impairment |
OMIM:156400 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany |
ORPHA:36913 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Head titubation, Increased circulating... |
ORPHA:3240 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... |
OMIM:601596 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia |
OMIM:600740 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Sensorineural hearing impairment, Hypophosphatemia, Hearing impairment |
OMIM:104200 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Calcinosis, Hypercalcemia |
OMIM:239200 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Neonatal hyperbilirubinemia, Sensorineural hearing impairmen... |
ORPHA:529808 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Neonatal hyperbilirubinemia, Sensorineural hearing impairmen... |
ORPHA:529799 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... |
OMIM:227810 |
Thyrotoxic Periodic Paralysis |
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Transient hypophosphatemia, Hyperkalemia, Tremor, Episodic hypokalemia, Abnormality of peripheral... |
ORPHA:79102 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy, Prolonged brainstem auditory evoked potentials |
OMIM:616881 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... |
ORPHA:411634 |
Opsismodysplasia |
|
Posteriorly rotated ears, Low-set ears, Hypophosphatemia |
OMIM:258480 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hypermagnesemia, Hyperuricemia |
ORPHA:469 |
Raine Syndrome |
|
Low-set ears, Hypophosphatemia, Protruding ear, Mixed hearing impairment, Abnormal pinna morpholo... |
OMIM:259775 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Low-set ears, Posteriorly rotated ears, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Neuroleptic Malignant Syndrome |
|
Hyperuricemia, Oculogyric crisis, Abnormal autonomic nervous system physiology, Hyperphosphatemia... |
ORPHA:94093 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Hearing impairment |
ORPHA:249 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Mccune-Albright Syndrome |
|
Hypophosphatemia, Hearing impairment |
ORPHA:562 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Head titubation, Autonomic bladder dysfunction, Abnormal autonomic ne... |
ORPHA:99027 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... |
ORPHA:3337 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hearing impairment, Tremor, Optic nerve compression, Hypocalcemia |
ORPHA:667 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... |
ORPHA:94089 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperuricemia, Hydroxyprolinemia, Hyperphosphatemia, Hearing impairment, Sensorineural hearing im... |
OMIM:239000 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Writer's cramp, Hypocalcemia, Optic atrophy, Hypomagnesemia |
ORPHA:428 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia |
ORPHA:405 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
Pearson Syndrome |
|
Hypophosphatemia, Hyperalaninemia, Hypokalemia, Hearing impairment, Hypocalcemia, Hypomagnesemia |
ORPHA:699 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hyperphosphatemia, External ear malformation, Hypocalcemia |
ORPHA:2323 |
Cystinosis, Nephropathic |
|
Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, Decreased p... |
OMIM:219800 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Hypophosphatemia, Protruding ear, EEG abnormality, Hypokalemia... |
ORPHA:534 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Absent brainstem auditory responses, Decreased nerve conduction velocity, Optic nerv... |
ORPHA:101085 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypocalcemic tetany, Sensorineural hearing impairment, Hypophosphatemic r... |
ORPHA:289176 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia, Hearing impairment |
ORPHA:457059 |
Fructose Intolerance, Hereditary |
|
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia |
OMIM:229600 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia, Sensorineural hearing impairment |
ORPHA:89936 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Hearing impairment, Opisthotonus, Prolonged brainstem audito... |
ORPHA:206436 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Increased blood urea nitrogen, Hearing impairment, Tremor, A... |
ORPHA:90321 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... |
ORPHA:79444 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Sensorineural ... |
ORPHA:79443 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Hyperphosphatemia, Hearing impairment |
OMIM:101800 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Short-segment aganglionic megacolon, Hypoplasia of the semicircular canal, Absent br... |
OMIM:609136 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:423 |
Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia |
ORPHA:79330 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany |
ORPHA:93325 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic di... |
ORPHA:909 |
Trisomy 10P |
|
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Abnormal auditory... |
ORPHA:171929 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Decreased nerve conduction velocity, Tremor, Abnormal auditory evoked ... |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Decreased nerve conduction velocity, Tremor, Abnormal auditory evoked ... |
OMIM:216400 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydroc... |
ORPHA:401973 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:466650 |
Obsolete: Acrodysostosis With Multiple Hormone Resistance |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:280651 |