| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Joint stiffness, Osteopoikilosis |
OMIM:166700 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia |
OMIM:615863 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... |
OMIM:246700 |
| Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density |
OMIM:259660 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment |
OMIM:241520 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... |
OMIM:616000 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Increased bone density with cystic changes, Ataxia, Increased bone mineral density,... |
OMIM:136300 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Osteochondrosis Of The Metatarsal Bone |
|
Difficulty walking, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness, Arthritis |
ORPHA:564003 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... |
ORPHA:79506 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Difficulty walking, Sclerosis of foot bone, Joint stiffness, Kn... |
ORPHA:566943 |
| Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Melorheostosis |
|
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... |
ORPHA:2485 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
| Distal Osteosclerosis |
|
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:126250 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... |
ORPHA:210110 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... |
ORPHA:103910 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... |
ORPHA:529799 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... |
OMIM:144750 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... |
OMIM:166600 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent... |
OMIM:144300 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:94090 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Refractory Celiac Disease |
|
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia |
ORPHA:398063 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
| Abcd Syndrome |
|
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia |
ORPHA:99879 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia |
OMIM:256300 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
| Isolated Osteopoikilosis |
|
Generalized osteosclerosis |
ORPHA:166119 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia |
OMIM:154275 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Splenomegaly, Joint stiffness, Cardi... |
OMIM:252920 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased LDL cholesterol concentration, Decreased motor nerve conduction velocity, Hypocholester... |
OMIM:256840 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Congenital Analbuminemia |
|
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia |
ORPHA:86816 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... |
ORPHA:64753 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:146200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... |
OMIM:267700 |
| Schnitzler Syndrome |
|
Hepatomegaly, Arthritis, Increased bone mineral density, Splenomegaly |
ORPHA:37748 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:617575 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia |
OMIM:154276 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... |
ORPHA:247598 |
| Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... |
ORPHA:247585 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:616834 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia |
OMIM:608104 |
| Squalene Synthase Deficiency |
|
Elevated circulating methylsuccinic acid concentration, Macrotia, Low-set, posteriorly rotated ea... |
OMIM:618156 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... |
OMIM:144250 |
| Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
| Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Contractures of the large joints, Cardiomegaly |
OMIM:300886 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Dysosteosclerosis |
|
Ventricular septal defect, Craniofacial hyperostosis, Recurrent fractures, Increased bone mineral... |
ORPHA:1782 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis |
OMIM:215045 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia |
OMIM:145600 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
| Osteogenesis Imperfecta, Type Xiii |
|
Osteoporosis, Joint hypermobility, Increased bone mineral density |
OMIM:614856 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypouricemia, Hypokalemia |
OMIM:227810 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Hepatomegaly, Pathologic fractur... |
OMIM:259700 |
| Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... |
ORPHA:1306 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hearing impairment, Hyperphosphatemia |
OMIM:614207 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy |
OMIM:125250 |
| Gaucher Disease Type 3 |
|
Osteolysis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Ga... |
ORPHA:77261 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Paget Disease Of Bone 3 |
|
Osteolysis, Fractures of the long bones, Patchy osteosclerosis |
OMIM:167250 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:31824 |
| Uremic Pruritus |
|
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hearing impairment, Hypercalcemia |
OMIM:156400 |
| Potocki-Lupski Syndrome |
|
Hearing impairment, EEG abnormality, Hypocholesterolemia |
OMIM:610883 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... |
ORPHA:88618 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
| Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Sensorineural hearing impairm... |
ORPHA:540 |
| Leigh Syndrome With Nephrotic Syndrome |
|
EEG with focal spikes, Hypoalbuminemia |
ORPHA:255249 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia |
OMIM:618183 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Osteopetrosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:611490 |
| Gaucher Disease Type 1 |
|
Osteolysis, Pericardial effusion, Increased bone mineral density, Hepatomegaly, Pathologic fractu... |
ORPHA:77259 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... |
ORPHA:90650 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... |
OMIM:603553 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity |
OMIM:601455 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:619064 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia |
OMIM:600740 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Hepatosplenomegaly, Mandibular osteomye... |
OMIM:259710 |
| Carnitine Deficiency, Systemic Primary |
|
Lethargy, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Osteopenia, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Sensorineural hearing impairment, Azotemia |
OMIM:104200 |
| Wolcott-Rallison Syndrome |
|
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia |
ORPHA:1667 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Calcinosis, Hypercalcemia |
OMIM:239200 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
| Neuraminidase Deficiency |
|
Epiphyseal stippling, Hepatomegaly, Cardiomegaly, Dysmetria, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... |
ORPHA:93284 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Osteopetrosis, Hepatomegaly, Reduced bone mineral density, Splenomegaly |
ORPHA:2785 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Congenital Enterovirus Infection |
|
Hyperammonemia, Hypoalbuminemia |
ORPHA:292 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Macrotia, Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:90362 |
| Raine Syndrome |
|
Hypophosphatemia, Abnormality of the pinna, Posteriorly rotated ears, Neonatal death, Protruding ... |
OMIM:259775 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Sensorineural... |
ORPHA:96180 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... |
ORPHA:454836 |
| Diastrophic Dwarfism |
|
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density |
ORPHA:628 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Neonatal death, Hypoalbuminemia |
OMIM:619055 |
| Abetalipoproteinemia |
|
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... |
ORPHA:14 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
| Pseudohypoparathyroidism Type 1B |
|
Laryngeal dystonia, Increased bone density with cystic changes, Diaphyseal sclerosis, Increased b... |
ORPHA:94089 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Hypoalbuminemia |
OMIM:617303 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Inability to walk, Steppage gait, Abnormal atrioventricular valve morphology, Aortic valve stenos... |
ORPHA:324410 |
| Albers-Schönberg Osteopetrosis |
|
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... |
ORPHA:53 |
| Al Amyloidosis |
|
Postural hypotension with compensatory tachycardia, Autonomic erectile dysfunction, Abnormal auto... |
ORPHA:85443 |
| Majeed Syndrome |
|
Flexion contracture, Synovitis, Increased bone mineral density, Hepatomegaly, Increased susceptib... |
ORPHA:77297 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hypermagnesemia, Hyperuricemia |
ORPHA:469 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Hypocholesterolemia |
OMIM:618810 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Sensorineural hearing impairment, Hyperuricemia, Hydroxyprolinemia |
OMIM:239000 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... |
OMIM:605814 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Papilledema, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction, Thickened cortex of lo... |
OMIM:253250 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis |
ORPHA:615 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecularization, Aortic valve... |
ORPHA:2780 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cardiomegaly, ... |
OMIM:619259 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... |
OMIM:115197 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... |
ORPHA:36234 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Hepatosplenomegaly, Osteopetrosis, Splenomegaly |
OMIM:612840 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density |
ORPHA:163649 |
| Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... |
OMIM:300257 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Orthost... |
ORPHA:186 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia, Hearing impairment, Increased circulating cortisol level, Primary hypercortisolism |
ORPHA:562 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:235510 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:411634 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:255120 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Hemochromatosis, Type 1 |
|
Osteoporosis, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hearing impairment, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
| Primary Fanconi Renotubular Syndrome |
|
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... |
ORPHA:3337 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Ataxia, Hepatomegaly, Distal arthrogryposis, Cardiomegaly |
ORPHA:42 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
| Cantu Syndrome |
|
Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventricle, Cardiomegaly, Bicus... |
OMIM:239850 |
| Gaucher Disease |
|
Arthrogryposis multiplex congenita, Osteolysis, Abnormal heart valve morphology, Mitral valve cal... |
ORPHA:355 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... |
ORPHA:3240 |
| Timothy Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... |
ORPHA:37042 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... |
OMIM:601376 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia, Increased serum iron, Microtia |
OMIM:222470 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Abnormal... |
ORPHA:89842 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Familial Parathyroid Adenoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99877 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Thin bony cortex, Increased bone mineral density |
ORPHA:85184 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
| Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Limited hip movement, Limited knee flexion/extension, Right ventricular hypert... |
ORPHA:268 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Osteoporosis, Lethargy, Stiff interphalangeal joints, Hepatomegaly, Joint stiffness, Cardiomegaly... |
ORPHA:465508 |
| Primary Parathyroid Hyperplasia |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99878 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... |
ORPHA:52368 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... |
ORPHA:1215 |
| Infantile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:411629 |
| Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:201050 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Flexion contracture, Fractured radius, Multiple prenatal fractures, Ca... |
OMIM:616897 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Thyrotoxic Periodic Paralysis |
|
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... |
ORPHA:79102 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect |
OMIM:618652 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Hypoalbuminemia, Macrotia |
OMIM:251300 |
| Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Waddling gait, Sclero... |
OMIM:131300 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta, Stiff neck |
OMIM:617022 |
| Beck-Fahrner Syndrome |
|
Joint hypermobility, Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal d... |
OMIM:618798 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Hypoalbuminemia |
ORPHA:505248 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormal heart valve morp... |
ORPHA:90652 |
| Erdheim-Chester Disease |
|
Osteolysis, Abnormal aortic valve morphology, Abnormal pericardium morphology, Ataxia, Increased ... |
ORPHA:35687 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concen... |
ORPHA:2298 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Pearson Syndrome |
|
Hypophosphatemia, Hypocalcemia, Steatorrhea, Hearing impairment, Hypokalemia, Hyperalaninemia, Hy... |
ORPHA:699 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... |
ORPHA:289176 |
| Poems Syndrome |
|
Sclerosis of hand bone, Pericardial effusion, Visceromegaly, Sclerosis of foot bone, Sclerosis of... |
ORPHA:2905 |
| Neuroleptic Malignant Syndrome |
|
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Dysosteosclerosis |
|
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... |
OMIM:224300 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Low-set, posteriorly rotated ears, Hyponat... |
ORPHA:534 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... |
ORPHA:1457 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria |
OMIM:229600 |
| Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Lethargy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Hsd10 Disease, Infantile Type |
|
Dystonia, Loss of ability to walk, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Desmosterolosis |
|
Increased bone mineral density, Anomalous pulmonary venous return, Osteopetrosis, Splenomegaly |
ORPHA:35107 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hearing impairment, Hyperphosphatemia |
ORPHA:457059 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
| Dent Disease |
|
Elevated circulating creatine kinase concentration, Hyperuricosuria, Renal hypophosphatemia |
ORPHA:1652 |
| Trichothiodystrophy |
|
Craniosynostosis, Gait ataxia, Ventricular septal defect, Increased bone mineral density, Multipl... |
ORPHA:33364 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Hepatosplenomegaly, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
| Hepatocellular Carcinoma |
|
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia |
ORPHA:88673 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia, Sensorineural hearing impairment |
ORPHA:89936 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
| Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Optic atrophy, Hyperphosphatemia |
ORPHA:428 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Ataxia |
OMIM:618476 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia, Hearing impairment, Optic nerve compression |
ORPHA:667 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... |
ORPHA:206443 |
| Kaufman Oculocerebrofacial Syndrome |
|
Abnormality of the pinna, Optic disc pallor, Hypocholesterolemia |
OMIM:244450 |
| Schwartz-Jampel Syndrome |
|
Osteoporosis, Arthrogryposis multiplex congenita, Gait disturbance, Flexion contracture of toe, B... |
ORPHA:800 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia |
ORPHA:423 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Supernumerary ve... |
OMIM:215140 |
| Tangier Disease |
|
Hypertriglyceridemia, Facial diplegia, Hypocholesterolemia |
ORPHA:31150 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatome... |
ORPHA:1329 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor |
OMIM:619260 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hearing impairment, Optic atrophy, Hyperphosphatemia |
OMIM:101800 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... |
OMIM:306955 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy, Enlarged kidney, Hepatomegaly, Cardiomegaly, Knee flexion contracture, Dilated cardiomy... |
OMIM:608836 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteoporosis, Joint hypermobility, Atrial septal defect, Craniosynostosis, Radioulnar synostosis,... |
OMIM:245600 |
| Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
| Werner Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone mineral density |
ORPHA:902 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Abnormal heart valve morphology, Cardiomegaly, Osteoporosis, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Developmental And Epileptic Encephalopathy 95 |
|
Inability to walk, Arthrogryposis multiplex congenita, Joint laxity, Gait disturbance, Ataxia, He... |
OMIM:618143 |
| Craniofaciofrontodigital Syndrome |
|
Joint hypermobility, Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:79444 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increa... |
ORPHA:2658 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:259720 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy |
OMIM:261740 |
| Gaucher Disease, Perinatal Lethal |
|
Arthrogryposis multiplex congenita, Akinesia, Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatospl... |
OMIM:608013 |
| Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Macrotia, Hearing impairment, Absent brainstem auditory responses,... |
ORPHA:90321 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Ventricular septal ... |
OMIM:602782 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Sensorineural hearing impairment, Hyperphosphatemi... |
ORPHA:79443 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Craniofacial hyperostosis, Gait disturbance, Flexion contractur... |
ORPHA:581 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Joint hypermobility, Osteopenia, Cardiomegaly, Abnormal bone ossification |
ORPHA:2463 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... |
ORPHA:99027 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Papilledema, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Ataxia |
OMIM:268800 |
| Desmosterolosis |
|
Arthrogryposis multiplex congenita, Total anomalous pulmonary venous return, Generalized osteoscl... |
OMIM:602398 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... |
ORPHA:101085 |
| Williams Syndrome |
|
Joint laxity, Abnormal endocardium morphology, Increased bone mineral density, Joint stiffness, C... |
ORPHA:904 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... |
OMIM:609136 |
| Fucosidosis |
|
Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Infantile Krabbe Disease |
|
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... |
ORPHA:206436 |
| Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Hypoalbuminemia, Macrotia |
OMIM:614748 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Posteriorly rotated ea... |
OMIM:270400 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Dystonia, Cardiomegaly |
OMIM:618278 |
| Mend Syndrome |
|
Elevated 8(9)-cholestenol, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol |
ORPHA:401973 |
| Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Camptodactyly of toe |
ORPHA:158687 |
| Atypical Werner Syndrome |
|
Osteoporosis, Sclerosis of hand bone, Increased bone mineral density, Osteolytic defects of the p... |
ORPHA:79474 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Pathologic fracture, Cardiomegaly, Splenomegaly, Osteopenia, Hypertrophic cardiomyo... |
OMIM:252500 |
| Trisomy 10P |
|
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... |
ORPHA:171929 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
| Primary Hyperoxaluria |
|
Recurrent fractures, Generalized osteosclerosis, Cardiomyopathy |
ORPHA:416 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Cleidocranial Dysplasia |
|
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... |
OMIM:119600 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:466650 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... |
ORPHA:909 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Splenomegaly |
OMIM:612301 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Joint laxity, Ankylosis, Ventricular septal defect, Ataxia, Right ventricul... |
OMIM:300967 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Inability to walk, Osteoporosis, Difficulty walking, Flexion contracture, Hepatomegaly, Left vent... |
ORPHA:365 |
| Bohring-Opitz Syndrome |
|
Inability to walk, Bilateral wrist flexion contracture, Congenital contracture, Cardiomegaly, Abn... |
ORPHA:97297 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Cockayne Syndrome A |
|
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... |
OMIM:216400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy |
ORPHA:228308 |
| Cockayne Syndrome B |
|
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... |
OMIM:133540 |
| Truncus Arteriosus |
|
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... |
ORPHA:3384 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... |
OMIM:269500 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Joint laxity, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Aicardi-Goutières Syndrome |
|
Dystonia, Difficulty walking, Arthritis, Multiple joint contractures, Cardiomegaly, Hepatosplenom... |
ORPHA:51 |
| Singleton-Merten Syndrome 1 |
|
Osteoporosis, Mitral valve calcification, Aortic valve stenosis, Waddling gait, Cardiomegaly, Aor... |
OMIM:182250 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Lethargy, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... |
ORPHA:99125 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Atrial septal defect, Sclerosis of skull base, Thickened cortex ... |
OMIM:269150 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture of finger, Flexion contracture, Flexion contracture ... |
OMIM:256040 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy |
OMIM:130650 |
| Pmm2-Cdg |
|
Abnormality of the pinna, Macrotia, Hypoalbuminemia, Reduced thyroxin-binding globulin |
ORPHA:79318 |
| Yunis-Varon Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Decreased skull ossification, Abse... |
ORPHA:3472 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pericardial effusion, Hypophosphatemic rickets, Abnormal calcification o... |
ORPHA:51608 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyop... |
ORPHA:116 |
