| Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
| Macrocephaly, Benign Familial |
|
Frontal bossing, Dolichocephaly, Macrocephaly, Biparietal narrowing, Long philtrum |
OMIM:153470 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia |
OMIM:211900 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia |
OMIM:612462 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... |
OMIM:239000 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis, Hyperphosphatemia |
OMIM:103580 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Holoprosencephaly 9 |
|
Cleft upper lip, Microcephaly, Agenesis of incisor, Dental malocclusion, Cleft palate, Bilateral ... |
OMIM:610829 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Microcephaly, Carious teeth, Cleft lip, Pierre-Robin sequence, ... |
OMIM:117650 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Short lingual frenulum, Den... |
OMIM:180700 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... |
ORPHA:94089 |
| Cerebrocostomandibular Syndrome |
|
Glossoptosis, Short hard palate, Cleft palate, Microcephaly |
ORPHA:1393 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
OMIM:241410 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia |
ORPHA:89937 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Microcephaly |
ORPHA:2521 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Weill-Marchesani Syndrome 1 |
|
Broad skull, Tooth malposition, Brachycephaly, Narrow palate |
OMIM:277600 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma... |
ORPHA:93160 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Torus palatinus |
ORPHA:2790 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density |
ORPHA:428 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate |
ORPHA:1969 |
| Weill-Marchesani Syndrome 2 |
|
Broad skull, Brachycephaly, Narrow palate, High palate, Tooth malposition |
OMIM:608328 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku... |
ORPHA:93325 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79444 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Microcephaly, Broad skull, Cleft palate, Short philtrum |
ORPHA:163979 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Codas Syndrome |
|
Delayed eruption of teeth, Broad skull, Rectovaginal fistula, Enamel hypoplasia, Anal atresia |
OMIM:600373 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... |
ORPHA:79443 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Epiphyseal stippling, Neonatal epiphyseal stippling, Hyperphosphatemia |
OMIM:101800 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Hypophosphatem... |
OMIM:307800 |
| Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Torus palatinus |
ORPHA:2536 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:264700 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened calvaria, Torus palatinus |
OMIM:607634 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Red... |
OMIM:619795 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat... |
ORPHA:352540 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Flat occiput, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ver... |
OMIM:617412 |
| Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Cystinosis |
|
Hypokalemia, Rickets, Hypophosphatemia |
ORPHA:213 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Osteomyelitis, Increased circulating renin level |
ORPHA:171876 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi... |
OMIM:156400 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia |
OMIM:600740 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Hy... |
OMIM:619381 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Ankle flexion contracture, Increased ... |
ORPHA:100924 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Microcephaly, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia |
ORPHA:3201 |
| Coccidioidomycosis |
|
Broad skull |
ORPHA:228123 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Microcephaly, Prominent median palatal raphe, Torus palatinus, Solitary median m... |
OMIM:147250 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Hyperbilir... |
OMIM:227810 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Microcephaly |
OMIM:619239 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... |
ORPHA:249 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia |
ORPHA:2088 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Warty Dyskeratoma |
|
Abnormality of the alveolar ridges, Oral mucosa nodule, Abnormal hard palate morphology, Focal ep... |
ORPHA:69745 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Generalized bone demineralization |
ORPHA:199299 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ... |
ORPHA:247353 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Alg8-Cdg |
|
Hyponatremia, Camptodactyly |
ORPHA:79325 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, High, narrow palate, Submucous cleft ha... |
ORPHA:2780 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard palate, Wide mouth, Plagio... |
OMIM:618106 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Mirage Syndrome |
|
Hyponatremia, Radial club hand, Hyperkalemia |
OMIM:617053 |
| Familial Dysautonomia |
|
Hyponatremia, Recurrent fractures, Osteolysis |
ORPHA:1764 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... |
ORPHA:89936 |
| Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... |
ORPHA:1652 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... |
ORPHA:3337 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Rickets, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Schilbach-Rott Syndrome |
|
Narrow mouth, Submucous cleft hard palate, Bifid uvula, Microcephaly |
OMIM:164220 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Recurrent fractures, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:168558 |
| Alg12-Cdg |
|
Hyponatremia, Abnormal bone ossification, Hypoalbuminemia, Hypocholesterolemia, Camptodactyly |
ORPHA:79324 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Microcephaly, Velopharyngeal insufficiency, Sub... |
OMIM:614701 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:289548 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Tracheomalacia |
OMIM:620155 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Whipple Disease |
|
Hyponatremia, Arthritis |
ORPHA:3452 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Submucous cleft hard palate, Prominent occiput, Unilateral cleft lip, Unilateral cleft palate, Mi... |
OMIM:619122 |
| Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia, Gene... |
ORPHA:85138 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| 8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Microcephaly, Submucous cleft hard palate, Long p... |
ORPHA:178303 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia... |
OMIM:219800 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... |
OMIM:259775 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Hypocalcemia, Osteopetrosis,... |
ORPHA:667 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Dolichocephaly, Pyloric stenosis, Submucous cleft hard... |
ORPHA:457279 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Microcephaly, Submucous cleft hard palate, Downturned corners of mouth,... |
OMIM:619680 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Shigellosis |
|
Hyponatremia, Arthritis, Abnormal blood ion concentration |
ORPHA:810 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Joint hyperflexi... |
ORPHA:534 |
| Japanese Encephalitis |
|
Hyponatremia, Stiff neck, Elbow flexion contracture |
ORPHA:79139 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Dolichocephaly, High, narrow palate, Submucous cleft h... |
OMIM:612863 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| 1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate, Midface retrusion, Microcephaly |
OMIM:222765 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Microcephaly, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral clef... |
OMIM:619103 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Microcephaly, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Plagioc... |
OMIM:619227 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Parathyroid Carcinoma |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Hydrolethalus |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Bifid uvula |
ORPHA:2189 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula, Microcephaly |
OMIM:617660 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
| Branchioskeletogenital Syndrome |
|
Unilateral cleft palate, Craniosynostosis, Microcephaly, Abnormality of the dentition, Carious te... |
ORPHA:1299 |
| Holoprosencephaly |
|
Hyponatremia, Joint hyperflexibility |
ORPHA:2162 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Bifid uvula, Midface retrusion |
OMIM:108300 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Desmosterolosis |
|
Frontal bossing, Intestinal malrotation, Microcephaly, Submucous cleft hard palate, Cleft palate,... |
ORPHA:35107 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Walker-Warburg Syndrome |
|
Microcephaly, Submucous cleft hard palate, Cleft palate, Macrocephaly, Bifid uvula |
ORPHA:899 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Dental crowding, Cleft ha... |
OMIM:300990 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate |
OMIM:114300 |
| Meier-Gorlin Syndrome 5 |
|
Long philtrum, Submucous cleft hard palate, Thick vermilion border, Microcephaly |
OMIM:613805 |
| W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Midface retrusion, Submucous cleft hard palate, Cleft palate, Gingival... |
ORPHA:2588 |
| Cardiofaciocutaneous Syndrome 1 |
|
Relative macrocephaly, Abnormality of the dentition, Open bite, Dolichocephaly, Deep philtrum, Su... |
OMIM:115150 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Velocardiofacial Syndrome |
|
Microcephaly, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, C... |
OMIM:192430 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, High, narrow palate, Submucous cleft hard palate, Cranial hype... |
ORPHA:2658 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu... |
OMIM:619991 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Microcephaly, Submucous cleft hard palate, Cleft palate, Prominent o... |
ORPHA:2671 |
| Pearson Syndrome |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, Hyperkalemia, Radioul... |
OMIM:201750 |
| Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, Microcephaly, High, narrow palate, Abnormality... |
ORPHA:2753 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
| Zttk Syndrome |
|
Relative macrocephaly, Frontal bossing, Midface retrusion, Craniosynostosis, Abnormality of the d... |
OMIM:617140 |
| Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate |
OMIM:609166 |
| Tolchin-Le Caignec Syndrome |
|
Submucous cleft hard palate, Scaphocephaly, Oxycephaly, Prominent occiput, High palate, Narrow mouth |
OMIM:618971 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Microcephaly, Submucous cleft hard palate, Cleft palate, Solitary median maxill... |
OMIM:301043 |
| Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth |
ORPHA:3426 |
| Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Submucous cleft hard palate, Macrocephaly, High palate, Biparietal narrowing, Lo... |
ORPHA:1340 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Ear-Patella-Short Stature Syndrome |
|
Craniosynostosis, Microcephaly, High, narrow palate, Submucous cleft hard palate, Cleft palate, T... |
ORPHA:2554 |
| Neuroocular Syndrome |
|
Microcephaly, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely space... |
OMIM:619539 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Microcephaly, Carious teeth, Velopharyngeal insufficiency, Submucous c... |
OMIM:223370 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Craniosynostosis, Microcephaly, Abnormality of the dent... |
ORPHA:235 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
| Holoprosencephaly 2 |
|
Proboscis, Microcephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Midface ret... |
OMIM:157170 |
| Campomelic Dysplasia |
|
Relative macrocephaly, Irregular dentition, Frontal bossing, Carious teeth, Submucous cleft hard ... |
OMIM:114290 |
| Marden-Walker Syndrome |
|
Microcephaly, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:2461 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Microcephaly |
OMIM:618891 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... |
OMIM:619194 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Microcephaly, Submucous cleft hard palate, Prominent occiput, Bifid uvula, Neoplasm of the tongue |
ORPHA:3047 |
| Primrose Syndrome |
|
Thick lower lip vermilion, Brachycephaly, Macrocephaly, Downturned corners of mouth, High palate,... |
OMIM:259050 |
| Coffin-Siris Syndrome 12 |
|
Frontal bossing, Microcephaly, Celiac disease, Dolichocephaly, Velopharyngeal insufficiency, Subm... |
OMIM:619325 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Microcephaly, Supernumerary tooth, Submu... |
OMIM:300166 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Microcephaly, Submucous cleft hard palate, Cleft palate, Prominent occiput, Thick vermilion borde... |
ORPHA:2636 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... |
ORPHA:261537 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Frontal bossing, Midface retrusion, Cleft upper lip, Microcephaly, Submucous cleft hard palate, B... |
OMIM:607872 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Mi... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Frontal bossing, Dental crowding, Aganglionic megacolon, Abnormal dent... |
ORPHA:261552 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Pyloric stenosis, Submucous cleft... |
OMIM:235730 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Decreased calvarial ossification, Submucous cleft hard palate, Narrow mouth |
OMIM:275210 |
| Restrictive Dermopathy |
|
Natal tooth, Submucous cleft hard palate, Microcolon, Narrow mouth |
ORPHA:1662 |
