Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:600501 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial palsy |
OMIM:617519 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Non-Syndromic Genetic Deafness |
|
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... |
ORPHA:87884 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Intention tremor |
OMIM:610539 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Tremor, Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypocalcemia |
ORPHA:163693 |
Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Ring Chromosome 10 Syndrome |
|
Large earlobe, Wide nasal bridge, Abnormal antihelix morphology, Hypocalcemia |
ORPHA:1438 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Vestibular dysfunction, Abnormality of somatosensory evoked potentials, Absent bra... |
ORPHA:52368 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Conductive hearing impairment, Wide nasal bridge, Hearing impairment, Sensorineura... |
ORPHA:557003 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... |
OMIM:201050 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:608224 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Hypercholestero... |
ORPHA:247585 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Otosclerosis 7 |
|
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... |
OMIM:611572 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hypocalcemia, Fatigable weakness of swallowing mus... |
ORPHA:99845 |
Hypotonia-Cystinuria Syndrome |
|
Macrotia, Posteriorly rotated ears, Hypocalcemia |
OMIM:606407 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia |
OMIM:608104 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Nephrotic Syndrome, Type 14 |
|
Sensorineural hearing impairment, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... |
ORPHA:529799 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Dahlberg-Borer-Newcomer Syndrome |
|
Wide nasal bridge, Hypocalcemia |
ORPHA:1563 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration |
OMIM:616834 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... |
OMIM:144300 |
Albers-Schönberg Osteopetrosis |
|
Hearing impairment, Hypocalcemia |
ORPHA:53 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia |
ORPHA:2070 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Low-set, posteriorly rotated e... |
OMIM:618156 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia |
OMIM:179800 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Oculoskeletodental Syndrome |
|
Hearing impairment, Hypercalcemia, Wide nasal bridge, Hypocalcemia |
OMIM:618440 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... |
ORPHA:88618 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Sensorineural hearing impairment, Steatorrhea |
OMIM:266510 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia, Short nose |
OMIM:614732 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormality of the pinna, Hypocalcemia |
OMIM:607143 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
X-Linked Agammaglobulinemia |
|
Sensorineural hearing impairment, Hypocalcemia |
ORPHA:47 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Sensorineural hearing impairment, Hypercalcemia |
ORPHA:2668 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Wide nasal bridge, Hypocalcemia |
OMIM:235255 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... |
ORPHA:31824 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Sensorineural hearing impairment, Increased circulating ferritin concentration, Hypertriglyceride... |
ORPHA:540 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hearing impairment |
OMIM:610883 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Non-Functioning Paraganglioma |
|
Tremor, Hypercalcemia, Pulsatile tinnitus, Conductive hearing impairment |
ORPHA:94080 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Macrotia, Hypoalbuminemia |
OMIM:212065 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia |
ORPHA:1667 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hearing impairment, Hypocalcemia |
OMIM:259700 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hyperbilirubinemia, Hypocalcemia |
OMIM:259720 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Mucopolysaccharidosis-Plus Syndrome |
|
Wide nasal bridge, Hypoalbuminemia |
OMIM:617303 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Fatigable weakness, Hyperphosphatemia, Hypocalcemia |
ORPHA:428 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Se... |
ORPHA:96180 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia |
OMIM:607765 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Wide nasal bridge |
OMIM:618810 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Sensorineural hearing impairment, Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Wide nasal bridge, Hypoalbuminemia |
OMIM:235510 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... |
ORPHA:14 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... |
ORPHA:101085 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Abnormal blood ion con... |
ORPHA:37042 |
Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Abnormality of the pinna, Sensorineural hearing impairment, Hy... |
ORPHA:79324 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... |
ORPHA:89842 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... |
ORPHA:90363 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia |
ORPHA:79444 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia |
ORPHA:73224 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia |
OMIM:619487 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis, Microtia, Hypermethioninemia |
OMIM:222470 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... |
ORPHA:99027 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Sensorineural hearing impairment, Hypocal... |
ORPHA:79443 |
Celiac Disease, Susceptibility To, 1 |
|
Steatorrhea, Hypocalcemia |
OMIM:212750 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Cartilage-Hair Hypoplasia |
|
Macrotia, Low-set, posteriorly rotated ears, Wide nasal bridge, Hypocalcemia |
ORPHA:175 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose, Hypoalbuminemia |
ORPHA:505248 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:88673 |
Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Galloway-Mowat Syndrome 1 |
|
Macrotia, Hypoalbuminemia |
OMIM:251300 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Abnormality of ... |
ORPHA:90321 |
Craniofacioskeletal Syndrome |
|
Microtia, Posteriorly rotated ears, Hypocalcemia |
OMIM:300712 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Hypotrig... |
ORPHA:2298 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Hearing impairment, Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Microtia, Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses |
ORPHA:79330 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypercalcemia, Pulsatile tinnitus, Conductive hearing impairment |
ORPHA:276621 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Conductive hearing impairment, Macrotia, Hypo... |
ORPHA:2785 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Progressive sensorineural hearing impairment, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2237 |
Hypophosphatasia, Infantile |
|
Hypercalcemia, Elevated plasma pyrophosphate |
OMIM:241500 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Pearson Syndrome |
|
Hypokalemia, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Hearing impairment, Steatorrhea, ... |
ORPHA:699 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:466650 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Hypercalcemia, Short nose |
ORPHA:476126 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Short nose, Abnormality of the pinna |
OMIM:244450 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Gitelman Syndrome |
|
Hypokalemia, Primary hyperaldosteronism, Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Tinnitus |
ORPHA:358 |
Hennekam Syndrome |
|
Conductive hearing impairment, Wide nasal bridge, Hypocalcemia |
ORPHA:2136 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia, Hearing impairment |
OMIM:156400 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Cranioectodermal Dysplasia 1 |
|
Wide nasal bridge, Hypocalcemia |
OMIM:218330 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... |
ORPHA:99826 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Calcinosis, Hypophosphatemia |
OMIM:239200 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Hypocalcemia |
ORPHA:544482 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:216400 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... |
ORPHA:405 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
22Q11.2 Deletion Syndrome |
|
Conductive hearing impairment, Overfolded helix, Wide nasal bridge, Hearing impairment, Hypocalce... |
ORPHA:567 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Hypercalcemia, Pulsatile tinnitus, Conductive hearing impairment |
ORPHA:29072 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level, Decr... |
ORPHA:95409 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormality of somatosensory evoked potential... |
ORPHA:909 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set, posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:133540 |
Visceral Steatosis, Congenital |
|
Hypocalcemia |
OMIM:228100 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:280651 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... |
OMIM:601678 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Hyperuricemia |
ORPHA:199299 |
Monosomy 13Q34 |
|
Infantile hypercalcemia, Posteriorly rotated ears, Abnormal earlobe morphology |
ORPHA:96168 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Wide nasal bridge, Hypertriglyceridemia, Hearing impairment |
ORPHA:369837 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
Smith-Lemli-Opitz Syndrome |
|
Elevated 7-dehydrocholesterol, Hypocholesterolemia, Wide nasal bridge, Posteriorly rotated ears, ... |
OMIM:270400 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Macrotia, Hypoalbuminemia |
OMIM:614748 |
Tay-Sachs Disease |
|
Tremor, Increased serum beta-hexosaminidase, Exaggerated startle response, Hearing impairment |
ORPHA:845 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level, Decr... |
ORPHA:85138 |
Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Hearing impairment |
ORPHA:249 |
Immunodeficiency 82 With Systemic Inflammation |
|
Cholesteatoma, Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Asparagine Synthetase Deficiency |
|
Macrotia, Exaggerated startle response |
OMIM:615574 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hearing impairment, Hyperchole... |
OMIM:619534 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypomagnesemia, Short nose, Macrotia, Hypocalcemia |
OMIM:619503 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
ORPHA:309246 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Wide nasal bridge, Exaggerated startle response |
ORPHA:438216 |
Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
Charge Syndrome |
|
Hypocalcemia, Sensorineural hearing impairment, Mixed hearing impairment, Microtia, Cupped ear, L... |
OMIM:214800 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Plaa-Associated Neurodevelopmental Disorder |
|
Sensorineural hearing impairment, Short nose, Low-set, posteriorly rotated ears, Exaggerated star... |
ORPHA:521426 |
Parathyroid Carcinoma |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Vipoma |
|
Hypercalcemia, Increased circulating cortisol level, Hypokalemia |
ORPHA:97282 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
OMIM:272750 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Short nose, Posteriorly rotated ears, Exaggerated startle response |
OMIM:617527 |
Somatostatinoma |
|
Hypercalcemia, Increased circulating cortisol level, Steatorrhea |
ORPHA:97283 |
Ppoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Increased VLDL cholesterol concentration, Hypocalcemia |
OMIM:243800 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Glucagonoma |
|
Hypercalcemia, Increased circulating cortisol level, Steatorrhea |
ORPHA:97280 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:913 |
Grfoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
Gm1 Gangliosidosis Type 1 |
|
Macrotia, Exaggerated startle response, Hearing impairment |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:276152 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Hypophosphatemic Rickets |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:437 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Williams Syndrome |
|
Hypercalcemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase con... |
ORPHA:904 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Increased circulating cortisol level, Primary hypercortisolism |
ORPHA:652 |
Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Macrotia, Abnormality of the pinna, Hypoalbuminemia |
ORPHA:79318 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Short nose, Posteriorly rotated ears, Exaggerated startle response, Wide nasal bridge,... |
OMIM:619522 |
Williams-Beuren Syndrome |
|
Sensorineural hearing impairment, Hypercalcemia, Large earlobe, Short nose |
OMIM:194050 |
Sotos Syndrome |
|
Hypercalcemia, Conductive hearing impairment, Cholesteatoma, Hearing impairment, Tremor |
ORPHA:821 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Decreased serum iron |
ORPHA:438213 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |