Paget Disease Of Bone 4 |
|
Osteolysis, Elevated circulating alkaline phosphatase concentration |
OMIM:606263 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Elevated circulating alkaline phosphatase concentration |
OMIM:615198 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... |
OMIM:239100 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... |
ORPHA:329475 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Elevated circulating alkaline phosphatase concentration, Thin bo... |
OMIM:174810 |
Hyperostosis Frontalis Interna |
|
Elevated circulating alkaline phosphatase concentration, Hyperostosis frontalis interna |
OMIM:144800 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Elevated circulating alkaline phosphatase concentration, Fract... |
OMIM:167250 |
Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Osteopenia, Platysp... |
OMIM:126550 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating alkaline phosphatase concentration... |
OMIM:122860 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Elevated cir... |
OMIM:600785 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Elevated circulating alkaline phosphatase concentration, Osteopenia, Thoracolumb... |
OMIM:606631 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Osteosarcoma |
|
Elevated circulating alkaline phosphatase concentration, Pathologic fracture, Increased circulati... |
ORPHA:668 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Low alkaline phosphatase, Pathologic fracture, Increased susce... |
OMIM:146300 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Elevated circulating alkaline phosphatase concentration, ... |
OMIM:193100 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration |
OMIM:619073 |
Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Elevated circulating alkaline phosphatase concentration, Osteopenia, Scoliosis, B... |
OMIM:610968 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration |
OMIM:618188 |
Hypophosphatasia, Childhood |
|
Low alkaline phosphatase, Craniosynostosis |
OMIM:241510 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Paget disease of bone, Elevated circulating alkaline phosphatase concentration |
OMIM:615422 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Elevated circulatin... |
OMIM:600081 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip contracture, Elevated circulating alkaline phosphatase concentration, Osteopenia, Short neck,... |
OMIM:616809 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Elevated circulating alkaline p... |
OMIM:602080 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Elevated circulating alkaline phosphatase concentration, Rickets |
ORPHA:89937 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Elevated alkaline phosphatase of bone origin |
OMIM:613388 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Neutrophilia, Hereditary |
|
Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Elevated circu... |
OMIM:241530 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Osteomyelitis, Elevated circulating alkaline phosphatase... |
OMIM:259700 |
Gorham-Stout Disease |
|
Abnormal bone ossification, Osteomyelitis, Osteolysis involving bones of the lower limbs, Osteope... |
ORPHA:73 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated hepat... |
OMIM:616829 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Elevated circulating alkaline phosphatase concentration, Abnormal enzyme/co... |
ORPHA:79303 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration |
OMIM:613312 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Lumbar hyperlordosis, Paget disease of bone, Back pain, Elevated alkaline phosphatase of bone origin |
OMIM:167320 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Calvarial hyperostosis, Abnormality of t... |
ORPHA:52430 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Elevated circulatin... |
OMIM:264700 |
Paget Disease Of Bone 6 |
|
Recurrent fractures, Osteoarthritis, Elevated circulating alkaline phosphatase concentration |
OMIM:616833 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Back pain |
OMIM:174050 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concen... |
OMIM:307800 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Elevated circulatin... |
OMIM:277440 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Low alkaline phosphatase |
OMIM:618879 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Osteoporosis, ... |
ORPHA:98850 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, In... |
ORPHA:289176 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Rickets |
OMIM:616026 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Elevated circulating alkaline phosphatase concentration, Increased... |
OMIM:239000 |
Craniometadiaphyseal Dysplasia |
|
Sclerosis of skull base, Wide anterior fontanel, Elevated circulating alkaline phosphatase concen... |
OMIM:269300 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619658 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase |
OMIM:254700 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ... |
ORPHA:785 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Elevated circulating alkaline phosphatase concentration, Patholog... |
ORPHA:352540 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Pathologic fracture, Elevat... |
ORPHA:157215 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Osteopenia, Elevated ci... |
ORPHA:2088 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Generalized osteoporosis, Osteoporosis |
OMIM:601220 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Ankle flexion contracture, Low alkaline phosphatase |
OMIM:619985 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Scoliosis, Thin bony cortex, Elevated alkaline phosph... |
ORPHA:85188 |
Fanconi-Bickel Syndrome |
|
Osteomalacia, Elevated circulating alkaline phosphatase concentration |
OMIM:227810 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Elevated circulating alkaline phosphatase concentration, Osteopenia, Pathologic ... |
OMIM:156400 |
Cystic Echinococcosis |
|
Bone cyst, Elevated circulating alkaline phosphatase concentration, Eosinophilia, Abnormality of ... |
ORPHA:400 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... |
OMIM:300554 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
OMIM:214900 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Fibrous Dysplasia Of Bone |
|
Fibrous dysplasia of the bones, Elevated circulating alkaline phosphatase concentration, Osteomal... |
ORPHA:249 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616025 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... |
OMIM:619484 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Elevated... |
ORPHA:289157 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hypophosphatemic rickets, Elevated circulating alkaline phosphatas... |
ORPHA:263455 |
X-Linked Hypophosphatemia |
|
Elevated circulating alkaline phosphatase concentration, Reduced bone mineral density, Craniosyno... |
ORPHA:89936 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Sclerosis of skull base, Elevated circulating alkaline phosphatase concentration, Elbow flexion c... |
OMIM:618162 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Abnormality of alkaline phosphatase level |
OMIM:619356 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa... |
OMIM:613812 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa... |
OMIM:235555 |
Specific Granule Deficiency 1 |
|
Low neutrophil alkaline phosphatase |
OMIM:245480 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:613489 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606893 |
Primary Biliary Cholangitis |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Osteoporosis, Hepatitis... |
ORPHA:186 |
Eiken Syndrome |
|
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Delayed tarsal ossificatio... |
OMIM:600002 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated circulating as... |
ORPHA:79302 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin ... |
OMIM:300009 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615424 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Acute hepatic failure, Low alkaline phosphatase, Elevated circulating aspartate ... |
OMIM:278000 |
Hypophosphatemic Rickets |
|
Joint stiffness, Fibrous dysplasia of the bones, Elevated circulating alkaline phosphatase concen... |
ORPHA:437 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615716 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Osteoporosis, Elevated alkaline phosphatase of bone origin |
ORPHA:398063 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration |
OMIM:614749 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... |
ORPHA:263501 |
Lathosterolosis |
|
Butterfly vertebrae, Elevated circulating alkaline phosphatase concentration, Osteoporosis, Patho... |
OMIM:607330 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating aspartate aminotran... |
OMIM:619662 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Prolonged neonatal j... |
OMIM:616828 |
Graft Versus Host Disease |
|
Elevated circulating alkaline phosphatase concentration, Dupuytren contracture, Stiff interphalan... |
ORPHA:39812 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Delayed ossification of carpal bones, Elevated circulating alkaline phosphatase concentration |
OMIM:239300 |
Raine Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Short ne... |
OMIM:259775 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Elevated circulating alkaline phosphatase concentration, Intrahepatic chol... |
OMIM:601847 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... |
OMIM:614576 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:614207 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Osteopenia, Low alkaline phosphatase, Scoliosis, Joint hypermobility |
ORPHA:369837 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Elevated circulating alkaline phosphatase concentration, Scoliosis, ... |
OMIM:618143 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
OMIM:600803 |
Dent Disease |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin ... |
ORPHA:1652 |
Xq12-Q13.3 Duplication Syndrome |
|
Low alkaline phosphatase |
ORPHA:314389 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating aspartate aminotran... |
OMIM:619525 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated gamma-glutamyltransfe... |
OMIM:613095 |
Trichohepatoneurodevelopmental Syndrome |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Scoliosis, Dis... |
OMIM:618268 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Short neck, Elevated circulating alkaline phosphatase concentration, Scoliosis |
ORPHA:247262 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Increased susceptibility to fractures, Abnormal trabecular bone morphology, Reduced b... |
ORPHA:2909 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
ORPHA:69665 |
Caroli Disease |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... |
ORPHA:53035 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated gamma-glutamyl... |
ORPHA:567983 |
Wild Type Attr Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:330001 |
Isolated Biliary Atresia |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated gamma... |
ORPHA:30391 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy... |
OMIM:620005 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Rheumatoid arthritis, Elevated circulating alkaline phosphatase concentration, Jaundice |
OMIM:108050 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Synostosis involving bones of the upper limbs, Abnormal trabecular bone morphology, P... |
ORPHA:221016 |
Developmental And Epileptic Encephalopathy 80 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:618580 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Wide anterior fontanel, Elevated circulating alkaline phosphatase concentration, Scoliosis |
OMIM:618548 |
Boudin-Mortier Syndrome |
|
Joint laxity, Elevated alkaline phosphatase of bone origin |
OMIM:619543 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Finger symphalangism, Abnormal trabecular bone morphology |
ORPHA:221008 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level |
ORPHA:247691 |
Primary Sclerosing Cholangitis |
|
Elevated alkaline phosphatase of hepatic origin, Acute hepatic failure, Osteopenia, Osteoporosis,... |
ORPHA:171 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration |
ORPHA:67 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Gout, Abnormality of alkaline phosphatase level |
OMIM:137920 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Low alkaline phosphatase |
OMIM:201100 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
ORPHA:521219 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase |
OMIM:608232 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Elevated circulating alkaline phosphatase concentration, Flexion contracture, Sh... |
OMIM:300868 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... |
ORPHA:562639 |
Caroli Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa... |
ORPHA:480520 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Hepatic failur... |
ORPHA:275761 |
Al Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:85443 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Increased... |
ORPHA:94093 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy... |
ORPHA:84081 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Elevated gamma-glutamyltr... |
ORPHA:100085 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
OMIM:613471 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... |
ORPHA:247598 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Joint hypermobility, Osteopenia, Elevate... |
OMIM:619534 |
Gallbladder Neuroendocrine Tumor |
|
Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Elevated gamma-glutamyltr... |
ORPHA:100086 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Elevated alka... |
ORPHA:51608 |
Juvenile Nephropathic Cystinosis |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:411634 |