Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tet... |
OMIM:103580 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Brachydactyly, Hyperphosphatemia, Obesity, Short metacarpal, Low urinary cyclic AMP... |
OMIM:603233 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... |
OMIM:618528 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub... |
OMIM:619868 |
Pseudohypoparathyroidism, Type Ic |
|
Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperp... |
OMIM:612462 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Laryngeal dystonia, Irritabil... |
ORPHA:94089 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... |
OMIM:600995 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Nephrocalcinosis, Irritability |
OMIM:146200 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Irritability, Anxiety, Calcium ... |
ORPHA:36913 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Proximal muscle weakness in lower limbs, Weakness of facial muscu... |
ORPHA:457050 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head,... |
OMIM:209950 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia, Irritability |
OMIM:239350 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Osteopenia, Flared metap... |
OMIM:619073 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... |
OMIM:603278 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Behavioral Variant Of Frontotemporal Dementia |
|
Apathy, Inappropriate behavior, Astrocytosis, Gait disturbance, Emotional blunting, Disinhibition... |
ORPHA:275864 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Pes cavus, Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Gliosis, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic ... |
OMIM:203700 |
Barth Syndrome |
|
Abnormality of neutrophils, Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardia... |
ORPHA:111 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Depression, Elevated creatine kinase after exercise, Limb-girdle mus... |
ORPHA:352470 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... |
OMIM:615573 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Failure to thrive, Increased bone mineral density, Macular scar, Hydroxyprolin... |
OMIM:239000 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cognitive impairment, Mental deterioration, Pes cavus, Elevated circulating creatine kinase conce... |
OMIM:208920 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Apathy, Gliosis, Progressive cerebellar ataxia, Depression, Abnormal mitochondrial morphology, Ab... |
ORPHA:275872 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Micronodular cirrhosis, Truncal ataxia, Difficulty walking, Increased total iron bi... |
ORPHA:309854 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Micropenis, Small hand, Patchy osteosclerosis, Micrognathia, Hyperphosphatemia, Sho... |
OMIM:241410 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Immunodeficiency 43 |
|
Radial bowing, Hypoproteinemia, Hypoplasia of the ulna, Hypoalbuminemia, Bronchiectasis, Recurren... |
OMIM:241600 |
Pseudohypoparathyroidism Type 1C |
|
Laryngeal dystonia, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, Low urin... |
ORPHA:79444 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Hypoal... |
OMIM:614131 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Apathy, Inappropriate behavior, Astrocytosis, Gait disturbance, Disinhibition, Aggressive behavio... |
OMIM:600795 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pes cavus, Distal lower limb muscle weakness, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Calciphylaxis |
|
Ectopic ossification, Cellulitis, Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... |
OMIM:307800 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Proteinuria, Ac... |
ORPHA:54370 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Enamel hypoplasia, Proteinuria... |
OMIM:618349 |
Pseudohypoparathyroidism Type 1A |
|
Laryngeal dystonia, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, Low urin... |
ORPHA:79443 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, H... |
OMIM:617994 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Nephrolithiasis,... |
OMIM:300554 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hypoplasia of penis, Small hand, Patchy osteosclerosis, Micrognathia, Hyperphosphat... |
ORPHA:2323 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... |
OMIM:264700 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... |
OMIM:600081 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Cognitive impairment, Elevated circulati... |
OMIM:300555 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Talipes equinovarus, Small for gestational age, Micropenis, Hypo... |
OMIM:607143 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Enam... |
OMIM:211900 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Hypertriglyceride... |
OMIM:619013 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Short distal phalanx of finger, Renal hypophosphatemia |
OMIM:241519 |
Progressive Non-Fluent Aphasia |
|
Depression, Abnormal lower motor neuron morphology, Anxiety, Astrocytosis |
ORPHA:100070 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... |
ORPHA:99845 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubul... |
OMIM:618913 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Pedal edema, Renal insufficiency, Hypoalbuminemia, Proteinuria, Microscopic h... |
ORPHA:84090 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, F... |
OMIM:241530 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology, Choreoatheto... |
OMIM:300438 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Hypoplas... |
OMIM:101800 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose tissue morphology, A... |
ORPHA:93160 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... |
OMIM:267700 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Recurrent l... |
ORPHA:86816 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l... |
OMIM:610600 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Arachnodactyly, Micrognathia, Partial duplicatio... |
OMIM:616730 |
Inherited Creutzfeldt-Jakob Disease |
|
Apathy, Progressive cerebellar ataxia, Bradykinesia, Depression, Anxiety, Akinetic mutism, Astroc... |
ORPHA:282166 |
Familial Infantile Bilateral Striatal Necrosis |
|
Loss of ambulation, Ataxia, Basal ganglia gliosis, Lower limb muscle weakness, Astrocytosis, Gait... |
ORPHA:225154 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Irritability, Diffuse mesangial sclerosis, Focal segmental glomeruloscler... |
ORPHA:656 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Dent Disease 1 |
|
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... |
OMIM:300009 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... |
ORPHA:64753 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Akinetic mutism, Astrocytosis, Recurrent aspiration pneumonia |
ORPHA:204 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyp... |
OMIM:619063 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... |
OMIM:614196 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foc... |
ORPHA:567548 |
Vitamin D-Dependent Rickets, Type 2A |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... |
OMIM:277440 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol co... |
ORPHA:247585 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Nephrotic syndrome, Clinodactyly of the 5th finger, Focal segmental glomer... |
OMIM:618347 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Recurrent phar... |
OMIM:308240 |
Alg6-Cdg |
|
Failure to thrive, Shortening of all distal phalanges of the fingers, Brachydactyly, Decreased LD... |
ORPHA:79320 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology, Urinary urgency, Lower limb muscle weakness, Ragged-red muscle... |
ORPHA:99013 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Anxiety, Hypercalciuria, Writer's cra... |
ORPHA:428 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Absent proxi... |
OMIM:619217 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Aspiration pneumonia, Oculogyric crisis, Elevated circulating creat... |
ORPHA:94093 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Hypoproteinemia, Diffuse mesangial sclerosis, Smal... |
OMIM:256300 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Abnormal spleen ph... |
ORPHA:398063 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... |
OMIM:610717 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Hypophosphatemia, Osteomalacia, Rickets |
OMIM:146350 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Hypocalcemia, Sparse bone t... |
ORPHA:289157 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Inability to walk, Atrial septal defect, Astrocytosis, Difficulty walking, Neph... |
OMIM:611087 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Genu recurvatum, Reduced bone mineral density, Mental deterioration, Talipes, S... |
ORPHA:2611 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Depression, Ataxia, Nephropathy, Astrocytosis |
OMIM:172500 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Abnormality of... |
OMIM:193100 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Hypoalbuminemia, Weight loss, Lymphadenopathy |
ORPHA:507 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... |
OMIM:612447 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Mental deterioration, Focal segmenta... |
OMIM:617575 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556037 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial complex IV, Hypertrophic cardiomyopathy, Abnormal mitochondri... |
OMIM:618378 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Recurrent aspiration pneumonia, Syndactyly, Polydactyly |
OMIM:300484 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Increased muscle glycogen content, Hepatomegaly |
OMIM:261750 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Cognitive impairment, Abnormal penis morphology, Abnormal hip bone morphology, Hyperphosphatemia,... |
ORPHA:457059 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Bowing of the legs, Hypophosphatemic rickets, Hypophosphatemia, Reduced bone min... |
ORPHA:157215 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... |
OMIM:603553 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... |
ORPHA:103910 |
Slc35A2-Cdg |
|
Talipes equinovarus, Transient nephrotic syndrome, Craniosynostosis, Increased circulating thyrog... |
ORPHA:356961 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Increased bone mineral density, Small for gestational age, Abnormality of the medul... |
OMIM:127000 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Osteopenia, Chondrocalcinosis, Hyperphosphaturia, Hypercalciuria, Generalized o... |
ORPHA:99879 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Renal cyst, Hypoalbuminemia, Proximal tubulopathy, ... |
OMIM:602579 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Clubbing, Hypoalbuminemia, Periostosis, Hyperostosis |
OMIM:614441 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hyponatremia, Hyperaldosteronism, Hyperkalemia, Recurrent respiratory infectio... |
OMIM:264350 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556030 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomegaly, Hypergalactosem... |
OMIM:230350 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Hepatic failure, Splenomegaly, Gait ataxia, Hepatic fibrosis, Cerebellar at... |
OMIM:616719 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Dilated card... |
OMIM:602390 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Dandy-Walker malformation, Multicystic kidney dysplasia, Abnor... |
ORPHA:3032 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Decreased plasma carnitine, Ragged... |
ORPHA:254864 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... |
OMIM:614817 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum pyruvate, Elevated... |
OMIM:500009 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor |
OMIM:609153 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent upper and lower respiratory tract infections, Recurrent tonsillitis, Increased circulat... |
ORPHA:171876 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... |
OMIM:603552 |
Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, A... |
ORPHA:1505 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff... |
OMIM:613388 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Talipes equinovarus, Joint contracture of the hand, Coronal craniosynostosis, Cutaneo... |
OMIM:235510 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:203400 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Aplasia/Hypoplasia of th... |
ORPHA:2585 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Depression, Anxiety, Elevated circulating aspartate aminotransferase ... |
OMIM:300842 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... |
OMIM:232700 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Flexion contracture, Splenomegaly, Flared iliac wing... |
OMIM:617303 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:278000 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Micropenis |
OMIM:613861 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphyseal cupping, Short rib... |
OMIM:156400 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Hepatomegaly, Bradykinesia, Macrovesicular hepatic steatosis, Cholest... |
OMIM:614924 |
Barth Syndrome |
|
Granulocytopenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Endocardial f... |
OMIM:302060 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased proportion autorea... |
OMIM:615559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate le... |
OMIM:619048 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy |
OMIM:608971 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Osteomalacia... |
OMIM:134600 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Splenomegaly, Cirrhos... |
OMIM:613490 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Truncal ataxia, Abnormal circulating crea... |
ORPHA:369840 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Hyperphosphaturia, Rickets |
ORPHA:89937 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperaldosteronism, Hyperkalemia |
OMIM:177735 |
Sandhoff Disease |
|
Ataxia, Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:796 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Increased variability in muscle fiber diameter, Unsteady gait, Skeletal muscle atro... |
ORPHA:17 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Elevated... |
OMIM:619644 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Hepatomegaly, Talipes equinovarus, Camptodactyly, Elevated circulating creatin... |
OMIM:608104 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Hypocalciuria, Genu valgum, Abnormal epiphysis... |
ORPHA:89936 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Weakness of facial musculature, Elevated circulating creatine kinase concentrati... |
ORPHA:352447 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Myopathy, Myoglo... |
ORPHA:228305 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Elevated h... |
OMIM:212140 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hyperphosph... |
OMIM:612287 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatomegaly, Irritability, Micropenis, Self-mutilation, Left ventricular hype... |
OMIM:619487 |
Cog7-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Elevated he... |
ORPHA:79333 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H... |
ORPHA:423 |
Trimethylaminuria |
|
Splenomegaly, Depression, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Depression, Increased urinary porphobilinogen, Anxiety, Elevated urin... |
OMIM:121300 |
Alg1-Cdg |
|
Renal insufficiency, Nephrotic syndrome, Hypoalbuminemia |
ORPHA:79327 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Ataxia, Hepatomegaly, Hepatic failure, Hyperam... |
ORPHA:2394 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... |
OMIM:612286 |
Wilson Disease |
|
Hepatomegaly, Glycosuria, Tremor, Pedal edema, Proteinuria, Limb dystonia, Hypouricemia, Renal tu... |
OMIM:277900 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Decreased activity of mitochondrial ATP synthase complex, Fulminant hepatic failure, Hepatomegaly... |
OMIM:609060 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Alg12-Cdg |
|
Failure to thrive, Abnormal bone ossification, Clinodactyly of the 5th finger, Talipes equinovaru... |
ORPHA:79324 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
OMIM:214900 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Reduced subcutaneous adipose tissue, Hypophosphatem... |
OMIM:227810 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Ataxia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, S... |
OMIM:613489 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulati... |
ORPHA:247598 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Palmoplantar kera... |
OMIM:242150 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-weight ... |
OMIM:308990 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Abnormal lymphatic vessel morphology, Hypoalbumine... |
ORPHA:90362 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... |
OMIM:603471 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Ataxia, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kin... |
ORPHA:42 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypoproteinemia, Hypoalbuminemia, Pneumonia, Clubbing of fingers, Clubbing |
OMIM:226300 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrou... |
ORPHA:352540 |
Dent Disease |
|
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... |
ORPHA:1652 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Hypoalbu... |
OMIM:613070 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... |
OMIM:616278 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... |
ORPHA:444463 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Pulmonary hypoplasia, Contracture of the proximal inte... |
OMIM:601559 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Inability to walk, Hepatomegaly, Splenomegaly, Elevated circulating aspar... |
OMIM:257200 |
Mpi-Cdg |
|
Failure to thrive, Hepatomegaly, Hypoalbuminemia |
ORPHA:79319 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short toe, Hypocalcemia, Hypoplastic vertebral bodies, Absent/hypoplastic paranasal sinuses, Hypo... |
ORPHA:280651 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... |
OMIM:614876 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... |
OMIM:251230 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, H... |
ORPHA:93325 |
Eosinophilic Gastroenteritis |
|
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Steatorrhea |
ORPHA:2070 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Flexion contracture, Steatorrhea, Intention ... |
OMIM:212065 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Generalized aminoaciduria, Hyp... |
OMIM:251880 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... |
OMIM:232400 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Abnormal renal physiolo... |
ORPHA:540 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Decreased body weight, Hepatomegaly, Hyperbilirubinemia, Metaphyseal dysp... |
ORPHA:1667 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells, Recurrent respiratory inf... |
OMIM:269840 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Unilateral renal agenesis, Hydroureter, Astrocyt... |
ORPHA:90324 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Decreased activity of mitochondrial... |
OMIM:619064 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... |
ORPHA:88618 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Osteopenia, Glycosuria... |
ORPHA:2088 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Nephritis, Short tibia, Ulnar bowing, Short forearm |
OMIM:127350 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hyperammonemia, Choreoathetosis, Renal insufficiency, N... |
ORPHA:79312 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macrog... |
ORPHA:258 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:367 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Decreased body weight, Pulmonary edema, Decreased glomerular filtration r... |
ORPHA:340 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Choreoathetosis, Reduced haptoglobin level, Reticulocytos... |
OMIM:612126 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Rickets of the lower limbs, Hypophosphatemic rickets, Abnormality of ren... |
ORPHA:289176 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:616860 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Thenar muscle atrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Fiber type ... |
OMIM:500013 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology |
ORPHA:757 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Decreased liver function, Renal cyst, Hepatomegaly |
OMIM:614870 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Mirage Syndrome |
|
Decreased body weight, Talipes equinovarus, Aspiration pneumonia, Hypospadias, Radial club hand, ... |
OMIM:617053 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Gaucher Disease, Type Iii |
|
Ataxia, Hepatomegaly, Splenomegaly, Depression, Decreased beta-glucocerebrosidase level, Pancytop... |
OMIM:231000 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Pleu... |
OMIM:618183 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Failure to thrive in infancy, Tubulointerstitial nephritis, Renal... |
OMIM:617595 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... |
ORPHA:567546 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hyperkalemia, Splenomegaly |
OMIM:608885 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Hepatomegaly, Nephritis, Coombs-positive hemolytic ... |
OMIM:614034 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Schistocytosis, Elevated circ... |
OMIM:274150 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Gliosis, Hepatomegaly, Inability to walk, 3-Met... |
ORPHA:26791 |
Cockayne Syndrome Type 1 |
|
Ataxia, Hepatomegaly, Increased blood urea nitrogen, Gait disturbance, Elevated hepatic transamin... |
ORPHA:90321 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Hypophosphatemia, Fibrous dysplasia of the bones, Abn... |
ORPHA:249 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Depression, Cirrhosis, Acute hepatic failure, Proxim... |
ORPHA:905 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Cellulitis, Elevated circulating creatine kinase concentration, Elevated circulatin... |
ORPHA:36234 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:614727 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Depression, Hepatic failure, Leukopenia, Hemolytic anemia, Recurrent ... |
ORPHA:108 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Flexion contracture, Elevated circulating creatine kinase concentration, Hyponatremi... |
ORPHA:682 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Organic aciduria, Cardiomyopathy |
ORPHA:35 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Ataxia, Hepatomegaly, Elevated hepatic transaminase, Hypertrophic cardi... |
OMIM:246900 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Acute kidney injury, Myoglobinuria, Hyperkalemia |
ORPHA:57 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cerebellar atrophy... |
OMIM:610333 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephr... |
ORPHA:213 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul... |
OMIM:235200 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hepatomegaly, Hypervalinemia, Leukocy... |
OMIM:615673 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Splenomegaly, Cachexia, Interstitial pneumoniti... |
ORPHA:37042 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Asci... |
ORPHA:890 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Talipes equ... |
OMIM:609945 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Nephrotic syndrome, Hiatus hernia, Diffuse mesangial sclerosis, Arachnodactyly... |
OMIM:617729 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Glycosuria, Large for gestational age, Proteinuria... |
OMIM:616026 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hypergalactosemia, Cho... |
ORPHA:570422 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concen... |
OMIM:255120 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Leigh Syndrome With Nephrotic Syndrome |
|
Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nep... |
ORPHA:255249 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... |
OMIM:617713 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... |
ORPHA:157 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Failure to thrive, Cachexia, Pes cavus, Enamel hypoplasia, Absence of subcutane... |
OMIM:610965 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopat... |
OMIM:614299 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... |
OMIM:201475 |
Cystic Echinococcosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... |
ORPHA:400 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Multiple Symmetric Lipomatosis |
|
Gait disturbance, Hepatomegaly |
ORPHA:2398 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... |
ORPHA:89842 |
Ménétrier Disease |
|
Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Metaphyseal irregularity, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splen... |
OMIM:239200 |
Microcephaly, Amish Type |
|
Hepatomegaly, Flexion contracture, Limb hypertonia, Cerebellar hypoplasia, Partial agenesis of th... |
OMIM:607196 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Camptodactyly, Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... |
OMIM:306000 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Portal fibros... |
ORPHA:370 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Talipes equinovarus, Stage 3 chronic ... |
OMIM:619743 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia, Metaphyseal cupping, Hypoplastic vertebral bodies, Sho... |
OMIM:258480 |
Congenital Enterovirus Infection |
|
Irritability, Hypoalbuminemia, Pleural effusion, Hyperammonemia |
ORPHA:292 |
Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhos... |
ORPHA:352 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Hepatomegaly, Lethargy |
OMIM:618224 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Abn... |
ORPHA:848 |
Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Hiatus hernia, Joint contracture of the hand, Diffuse mesangial sclerosis, Sm... |
OMIM:251300 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... |
OMIM:271500 |
Al Amyloidosis |
|
Nephrotic syndrome, Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal pulmona... |
ORPHA:85443 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Small for gestational age, Hypospadias, Cognitive ... |
OMIM:222470 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Hepatomegaly, Pancreatitis, Hyperammonemia, Leukopenia, Macrocytic anemia, Choreoathetosi... |
ORPHA:27 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c... |
ORPHA:829 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Self-mutilation, Micromelia, Hammertoe, Hip subluxation, Pulmonary hypoplasia, Epip... |
OMIM:270400 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Horseshoe kidney, Bowing of the long bones, Short long bone, Clinodactyly of the 5th ... |
ORPHA:1106 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... |
OMIM:601560 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Difficulty walking, Cerebellar atrophy, Abnormality of the mitochondrion, Skel... |
ORPHA:330050 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Renal insufficiency, Anemia, Lethargy |
ORPHA:28 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Hepatomegaly, Splenomegaly, Pontocerebellar atrophy, Elevated circulating creatine kinase... |
OMIM:608799 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly |
OMIM:608540 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... |
ORPHA:1414 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... |
OMIM:618892 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... |
ORPHA:228308 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hyperammonemia, ... |
ORPHA:159 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... |
OMIM:619802 |
Amoebiasis Due To Entamoeba Histolytica |
|
Pleural empyema, Hypoalbuminemia, Pleural effusion, Weight loss, Lung abscess |
ORPHA:67 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Increa... |
ORPHA:2924 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Hepatomegaly |
OMIM:615924 |
Dystonia-Aphonia Syndrome |
|
Abnormal urinary odor, Macroglossia, Abnormal mitochondrial shape, Anxiety, Gait disturbance, Uns... |
ORPHA:412217 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Flexion contracture, Recurrent respiratory infections, Splenomegaly |
ORPHA:77260 |
Free Sialic Acid Storage Disease |
|
Ataxia, Nephrotic syndrome, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:834 |
Hodgkin Lymphoma |
|
Ataxia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... |
ORPHA:14 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy |
OMIM:618234 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia, Clubbing |
OMIM:174900 |
Galactosemia I |
|
Increased level of galactitol in urine, Decreased liver function, Hepatomegaly, Aminoaciduria, In... |
OMIM:230400 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, D... |
OMIM:251900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly, Craniosynostosis, Osteopetrosis, Redu... |
ORPHA:667 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... |
OMIM:608836 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Hyperammonemia, Choreoathetosis, Renal ins... |
ORPHA:289916 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Elevated circula... |
OMIM:619518 |
Familial Hypoaldosteronism |
|
Failure to thrive, Proximal renal tubular acidosis, Increased circulating renin level, Hyponatrem... |
ORPHA:427 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Abnormal enzy... |
ORPHA:101330 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Hepatomegaly, Splenomegaly, Anxiety, Recurrent pneumonia |
OMIM:615637 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Cardiomyopathy, Anemia, He... |
OMIM:606069 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Primary Fanconi Renotubular Syndrome |
|
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... |
ORPHA:3337 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... |
OMIM:619662 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Decreased acid ceramidase activity, Irritability, Lipogranulomatosis |
OMIM:228000 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Progressive neurologic deterioration, 3-Methylglutaconic aciduria, Hypoalbumin... |
OMIM:618329 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis, ... |
OMIM:602722 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dicarboxylic ac... |
OMIM:212138 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis, Renal cortical cysts, Hepatomegaly, Electron transfer flavoprotein-ubiquinone oxidoreduc... |
OMIM:231680 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Osteomalacia, Distal renal tubular acidosis, Elevated... |
OMIM:179800 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... |
OMIM:269920 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Dysmetria, Splenomegaly, Urinary excretion of sialylated ol... |
OMIM:256550 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Atrial septal defect, Elevated circulating alkaline phosphatase concentration, Sple... |
OMIM:614576 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets |
OMIM:612089 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Splenomegaly, Increased circulating inosine concentration, Recurrent upper res... |
OMIM:613179 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia, Hepatosplenomegaly, Distal renal tubular acidosis, Isothenuria, N... |
OMIM:611590 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline... |
ORPHA:79303 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, T lymphocytopenia, Decreased proportion of clas... |
OMIM:615513 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short femur, Mi... |
ORPHA:1988 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the extraocular muscles, Cirrhosis, Macrovesicular hepatic steatosis, Foot dorsifl... |
ORPHA:298 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... |
OMIM:300853 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, Pulmon... |
OMIM:615704 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated gamma-gluta... |
OMIM:614582 |
Classic Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Depress... |
ORPHA:79239 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Decreased activity of mitochondrial ATP synthase complex, Dysplastic corpus callosum, Hepatomegal... |
OMIM:604273 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Ataxia, Quadriceps muscle weakness, Limb muscle weakness, Abnormality of the mit... |
ORPHA:254892 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Fragmented epiphyses, Epiphyseal dysplas... |
ORPHA:166016 |
Hypophosphatemic Rickets |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Fibrous dysplasia of the bones, Hyp... |
ORPHA:437 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Sialidosis Type 2 |
|
Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Nephropathy, Ascites, Skeletal muscle at... |
ORPHA:87876 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Oliguria, Hyperphosphatemia, Ac... |
ORPHA:466650 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... |
OMIM:613011 |
Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Depression, Hyperc... |
ORPHA:94059 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan sulfate excreti... |
OMIM:252920 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Transient h... |
ORPHA:156 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, H... |
OMIM:601847 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Aplasia/Hypoplasia of the cere... |
ORPHA:1192 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphadenopathy, ... |
ORPHA:858 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Apathy, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Organic aciduria, Decreased plas... |
OMIM:246450 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Bradykinesia, Polycythemia, Cirrhosis, Elevated hepatic t... |
OMIM:613280 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
|