| Achard Syndrome |
|
Brachycephaly, Broad skull |
OMIM:100700 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Osteopenia, Hyperc... |
OMIM:617994 |
| Hypophosphatemic Bone Disease |
|
Rickets, Hypophosphatemia, Osteomalacia |
OMIM:146350 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Calciphylaxis |
|
Hyperphosphatemia, Ectopic ossification |
ORPHA:280062 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Ectopic ossification |
ORPHA:79445 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Hypophosphatemia, Osteopenia, Increased susceptibility to fractures |
OMIM:612287 |
| Macrocephaly, Benign Familial |
|
Long philtrum, Biparietal narrowing, Macrocephaly, Dolichocephaly, Frontal bossing |
OMIM:153470 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia |
OMIM:193100 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia, Osteopenia |
OMIM:619073 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteoporosis, Hypophosphatemia, Osteopenia, Increased susceptibility to fractures |
OMIM:612286 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Increased bone mineral density, Hypocalcemic seizures, Hy... |
ORPHA:36913 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis |
OMIM:211900 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Osteoporosis, Hyperphosphatemia |
OMIM:612462 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Ankylosis,... |
OMIM:239000 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis, Hyperphosphatemia |
OMIM:103580 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Cerebrocostomandibular Syndrome |
|
Pierre-Robin sequence, Cleft soft palate, High palate, Long philtrum, Anteriorly placed anus, Sho... |
OMIM:117650 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Narrow palate, High palate, Delayed eruption of teeth, Short lingual frenulum, Long... |
OMIM:180700 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Short philtrum, Midface retrusion, Sol... |
OMIM:610829 |
| Cerebrocostomandibular Syndrome |
|
Short hard palate, Cleft palate, Glossoptosis, Microcephaly |
ORPHA:1393 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Transient hypophosphatemia, Increased bone mineral density, Thickened cortex o... |
OMIM:127000 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Increased bone density with cystic changes, I... |
ORPHA:94089 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypophosphatemia, Generalized osteoporosis, Hypercalcemia |
ORPHA:99879 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
| Weill-Marchesani Syndrome 1 |
|
Brachycephaly, Narrow palate, Abnormality of dental morphology, Broad skull, Tooth malposition |
OMIM:277600 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... |
OMIM:615751 |
| Craniosynostosis 1 |
|
Oxycephaly, Sagittal craniosynostosis, Scaphocephaly, Turricephaly, Biparietal narrowing, Dolicho... |
OMIM:123100 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Bifid uvula, Submucous cleft hard palate, Microcephaly |
ORPHA:2521 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol... |
ORPHA:93160 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemia, ... |
ORPHA:157215 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
ORPHA:2323 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Torus palatinus |
ORPHA:2790 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Hypocal... |
OMIM:600081 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Fanconi Renotubular Syndrome 2 |
|
Recurrent fractures, Osteomalacia, Hypophosphatemia, Rickets, Osteopenia |
OMIM:613388 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
| Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Reduced bone mineral density |
ORPHA:428 |
| Weill-Marchesani Syndrome 2 |
|
Brachycephaly, High palate, Narrow palate, Abnormality of dental morphology, Broad skull, Tooth m... |
OMIM:608328 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Hypokalemia, Hypophosphatemia, Osteomalacia |
OMIM:134600 |
| Stickler Syndrome |
|
Cleft upper lip, Long philtrum, Advanced eruption of teeth, Midface retrusion, Macroglossia, Open... |
ORPHA:828 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri... |
OMIM:300554 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate |
ORPHA:1969 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... |
ORPHA:3008 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosclerosis, Cortical thickening of long bon... |
ORPHA:93325 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem... |
OMIM:241530 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short philtrum, Thin upper lip vermilion, Microcephaly, Cleft palate, Broad skull |
ORPHA:163979 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Increased bone mineral ... |
ORPHA:79444 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
| Codas Syndrome |
|
Enamel hypoplasia, Delayed eruption of teeth, Anal atresia, Rectovaginal fistula, Broad skull |
OMIM:600373 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Increased bone mineral ... |
ORPHA:79443 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Hyperphosphatemia, Epiphyseal stippling, Neonatal epiphyseal stippling |
OMIM:101800 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Torus palatinus |
ORPHA:2536 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Osteomalacia, Hypophosphatemia, Rickets, Hypophosphat... |
OMIM:307800 |
| Fanconi-Bickel Syndrome |
|
Hypokalemia, Hypophosphatemia, Osteomalacia, Hypouricemia |
OMIM:227810 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Hypocal... |
OMIM:264700 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Torus palatinus, Thickened calvaria |
OMIM:607634 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia, Recurrent fractures |
ORPHA:457059 |
| Osteogenesis Imperfecta, Type Xxii |
|
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Multiple prena... |
OMIM:619795 |
| Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:682 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Hypophosphatemia, Sparse b... |
ORPHA:289157 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Osteoporosis, Hypoalbuminemia |
ORPHA:398063 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Hypocal... |
OMIM:277440 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Dent Disease 1 |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri... |
OMIM:300009 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Hypophosphatemia, Hypouricemia |
OMIM:616026 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Osteomyelitis, Hyponatremia |
ORPHA:171876 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... |
OMIM:617412 |
| Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Oncogenic Osteomalacia |
|
Increased susceptibility to fractures, Hypophosphatemia, Hypocalcemia, Pathologic fracture, Fibro... |
ORPHA:352540 |
| Congenital Isolated Acth Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Hip contracture, Hypophosphatemia, Osteopenia, Hypercalcemia, Pathologi... |
OMIM:156400 |
| Cystinosis |
|
Rickets, Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Arthritis, Elevated circulating C-reactive protein concentration, Hy... |
OMIM:619381 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Coccidioidomycosis |
|
Broad skull |
ORPHA:228123 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Hypodontia, Submucous cleft hard palate, Microcephaly, High, narrow palate, Glossoptosis |
ORPHA:3201 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi... |
OMIM:179800 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median maxillary centr... |
OMIM:147250 |
| Renal Tubular Acidosis Iii |
|
Rickets, Hypokalemia, Osteomalacia |
OMIM:267200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Hypophosphatemia, Rickets, Osteolysis, Cortical irregularity, Hyp... |
ORPHA:249 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Submucous cleft hard palate, Microcephaly |
OMIM:619239 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| Fanconi-Bickel Syndrome |
|
Rickets, Hypophosphatemia, Hypertriglyceridemia, Osteopenia |
ORPHA:2088 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Rickets of the lower limbs, Abnormal trabecular bone morphology, Increased b... |
ORPHA:289176 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia |
OMIM:617913 |
| Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Warty Dyskeratoma |
|
Neoplasm of the tongue, Abnormal hard palate morphology, Abnormality of the alveolar ridges, Oral... |
ORPHA:69745 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Alg8-Cdg |
|
Camptodactyly, Hyponatremia |
ORPHA:79325 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Brachycephaly, Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Macrocephaly,... |
ORPHA:2780 |
| Hypophosphatemic Rickets |
|
Osteomalacia, Enthesitis, Hypophosphatemia, Rickets, Craniofacial osteosclerosis, Hyperostosis, H... |
ORPHA:437 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| X-Linked Hypophosphatemia |
|
Vertebral hyperostosis, Enthesitis, Arthritis, Hypophosphatemia, Generalized osteosclerosis, Limi... |
ORPHA:89936 |
| Mirage Syndrome |
|
Radial club hand, Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Plagiocephaly, Wide mouth, Submucous cleft hard palate, Protruding tongue, Microceph... |
OMIM:618106 |
| Familial Dysautonomia |
|
Osteolysis, Recurrent fractures, Hyponatremia |
ORPHA:1764 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Mccune-Albright Syndrome |
|
Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Aneurysmal bone cyst, Hypophosph... |
ORPHA:562 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Dent Disease |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Elevated circulating... |
ORPHA:1652 |
| Primary Fanconi Renotubular Syndrome |
|
Increased susceptibility to fractures, Osteomalacia, Hypophosphatemia, Hypokalemia, Decreased pla... |
ORPHA:3337 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia |
ORPHA:405 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra... |
OMIM:619743 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration |
ORPHA:411629 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Alg12-Cdg |
|
Abnormal bone ossification, Camptodactyly, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:168558 |
| Schilbach-Rott Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Narrow mouth, Microcephaly |
OMIM:164220 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Skull asymmetry, Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard... |
OMIM:614701 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:289548 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Recurrent fractures, Hypercalcemia, Calcinosis |
OMIM:239200 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
| Whipple Disease |
|
Arthritis, Hyponatremia |
ORPHA:3452 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
| Addison Disease |
|
Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Increased circulating renin level... |
ORPHA:85138 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Midface retrusion, Submucous cleft hard palate, Prominent occiput, Unilateral cleft palate, Unila... |
OMIM:619122 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Rickets, ... |
OMIM:219800 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79473 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Raine Syndrome |
|
Increased bone mineral density, Hypophosphatemia, Subperiosteal bone formation, Arthrogryposis mu... |
OMIM:259775 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Submucous cleft hard pa... |
ORPHA:2712 |
| 8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Submucous cleft hard palate, Microcephaly, Craniosynostosis, Abnormality of the de... |
ORPHA:178303 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Osteopetrosis, Craniosynostosis, Reduced bon... |
ORPHA:667 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia |
ORPHA:95409 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Long philtrum, Plagiocephaly, Pyloric stenosis, Macrocephaly, Submucous cleft hard p... |
ORPHA:457279 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Long philtrum, Submucous cleft hard palate, Dolichocephaly, Frontal bossing, Thin up... |
OMIM:612863 |
| Shigellosis |
|
Arthritis, Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
| Japanese Encephalitis |
|
Elbow flexion contracture, Stiff neck, Hyponatremia |
ORPHA:79139 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| 1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Cleft palate, Submucous cleft hard palate, Thick vermilion border |
ORPHA:250999 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Midface retrusion, Submucous cleft hard palate, Microcephaly |
OMIM:222765 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Plagiocephaly, Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mouth... |
OMIM:619680 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent fractures, Osteomalacia, Arthritis, Hypokalemia, Hypophosphatemia, Joint ... |
ORPHA:534 |
| Mucopolysaccharidosis, Type Ix |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:601492 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Microcephaly, Unilateral clef... |
OMIM:619103 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Plagiocephaly, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Microc... |
OMIM:619227 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Parathyroid Carcinoma |
|
Osteoporosis, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
| Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyperkalemia, Hyponatremia |
ORPHA:293978 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Bifid uvula, Submucous cleft hard palate, Microcephaly |
OMIM:617660 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia, Hyponatremia |
ORPHA:275761 |
| Holoprosencephaly |
|
Joint hyperflexibility, Hyponatremia |
ORPHA:2162 |
| Hydrolethalus |
|
Gingival cleft, Bifid uvula, Submucous cleft hard palate, Cleft palate, Unilateral cleft lip |
ORPHA:2189 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
| Branchioskeletogenital Syndrome |
|
Brachycephaly, Thickened calvaria, Craniosynostosis, Bifid uvula, Submucous cleft hard palate, Sh... |
ORPHA:1299 |
| Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate |
OMIM:619314 |
| Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Bifid uvula, Submucous cleft hard palate, Midface retrusion, Cleft palate |
OMIM:108300 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Desmosterolosis |
|
Bifid uvula, Submucous cleft hard palate, Macrocephaly, Frontal bossing, Intestinal malrotation, ... |
ORPHA:35107 |
| Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Walker-Warburg Syndrome |
|
Macrocephaly, Bifid uvula, Submucous cleft hard palate, Microcephaly, Cleft palate |
ORPHA:899 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Midface retrusion, Thin uppe... |
OMIM:300990 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
| Meier-Gorlin Syndrome 5 |
|
Microcephaly, Submucous cleft hard palate, Long philtrum, Thick vermilion border |
OMIM:613805 |
| Arthrogryposis, Distal, Type 3 |
|
High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate |
OMIM:114300 |
| W Syndrome |
|
Submucous cleft hard palate, Broad uvula, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
| Myhre Syndrome |
|
Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard palate, Midface retrus... |
ORPHA:2588 |
| Cardiofaciocutaneous Syndrome 1 |
|
Dental malocclusion, High palate, Deep philtrum, Relative macrocephaly, Submucous cleft hard pala... |
OMIM:115150 |
| Velocardiofacial Syndrome |
|
Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, Microcephaly, C... |
OMIM:192430 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Bifid uvula, Submucous cleft hard palate, Macrocephaly, Facial hyperostosis, Abnormal... |
ORPHA:2658 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Joint laxity, Elevated ... |
OMIM:619991 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Bifid uvula, Submucous cleft hard palate, Prominent occiput, Everted... |
ORPHA:2671 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Humeroradial synostosis, Joint contracture of the hand, Decreased circulating renin level, Hyperk... |
OMIM:201750 |
| Pearson Syndrome |
|
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:699 |
| Orofaciodigital Syndrome Type 4 |
|
Rectovaginal fistula, Bifid uvula, Submucous cleft hard palate, Abnormal oral frenulum morphology... |
ORPHA:2753 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Hypodontia,... |
ORPHA:1071 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperkalemia, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
| Zttk Syndrome |
|
High palate, Craniosynostosis, Bifid uvula, Submucous cleft hard palate, Short philtrum, Midface ... |
OMIM:617140 |
| Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate |
OMIM:609166 |
| Tolchin-Le Caignec Syndrome |
|
Oxycephaly, Scaphocephaly, High palate, Submucous cleft hard palate, Prominent occiput, Narrow mouth |
OMIM:618971 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia |
OMIM:229600 |
| Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Median cleft lip, Solitary median maxillary central incisor, Microce... |
OMIM:301043 |
| Cardiofaciocutaneous Syndrome |
|
High palate, Long philtrum, Biparietal narrowing, Submucous cleft hard palate, Macrocephaly, Fron... |
ORPHA:1340 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Hyperkalemia, Hyponatremia |
ORPHA:90794 |
| Double Outlet Right Ventricle |
|
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate |
ORPHA:3426 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Increased serum bile acid concentration, Hyponatremia |
ORPHA:731 |
| Ear-Patella-Short Stature Syndrome |
|
Craniosynostosis, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Microcephaly, Cleft pal... |
ORPHA:2554 |
| Limb-Mammary Syndrome |
|
Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft lip, Cleft hard palate, Cleft palate |
ORPHA:69085 |
| Dubowitz Syndrome |
|
High palate, Delayed eruption of teeth, Velopharyngeal insufficiency, Submucous cleft hard palate... |
OMIM:223370 |
| Dubowitz Syndrome |
|
High palate, Wide mouth, Delayed eruption of teeth, Malabsorption, Craniosynostosis, Submucous cl... |
ORPHA:235 |
| Neuroocular Syndrome |
|
Widely spaced teeth, Ankyloglossia, Submucous cleft hard palate, Midface retrusion, Torus palatin... |
OMIM:619539 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Cleft palate, T... |
ORPHA:2250 |
| Holoprosencephaly 2 |
|
Proboscis, Bifid uvula, Submucous cleft hard palate, Midface retrusion, Median cleft lip and pala... |
OMIM:157170 |
| Campomelic Dysplasia |
|
Irregular dentition, High palate, Long philtrum, Relative macrocephaly, Submucous cleft hard pala... |
OMIM:114290 |
| Marden-Walker Syndrome |
|
Pyloric stenosis, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Microcephaly, Cleft palate |
ORPHA:2461 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Microcephaly |
OMIM:618891 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Wide mouth, Deep philtrum, Microdontia, Submucous cleft hard palate, Macroglossia, Thin upper lip... |
OMIM:619194 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Neoplasm of the tongue, Bifid uvula, Submucous cleft hard palate, Prominent occiput, Microcephaly |
ORPHA:3047 |
| Primrose Syndrome |
|
Brachycephaly, High palate, Thick lower lip vermilion, Macrocephaly, Midface retrusion, Torus pal... |
OMIM:259050 |
| Coffin-Siris Syndrome 12 |
|
High palate, Velopharyngeal insufficiency, Macrocephaly, Submucous cleft hard palate, Dolichoceph... |
OMIM:619325 |
| Microphthalmia, Syndromic 2 |
|
Dental malocclusion, Long philtrum, Delayed eruption of teeth, Oligodontia, Bifid uvula, Submucou... |
OMIM:300166 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Bifid uvula, Submucous cleft hard palate, Prominent occiput, Dolichocephaly, Microcephaly, Cleft ... |
ORPHA:2636 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Aganglionic megacolon, Pyloric stenosis, Bi... |
ORPHA:261537 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachycephaly, Cleft upper lip, High palate, Long philtrum, Abnormality of the anus, Bifid uvula,... |
OMIM:607872 |
| Mowat-Wilson Syndrome |
|
Enterocolitis, Widely spaced teeth, Thick lower lip vermilion, Aganglionic megacolon, Pyloric ste... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Thick lower lip vermilion, Aganglionic megacolon, Pyloric stenosis, Bi... |
ORPHA:261552 |
| Carney Complex |
|
Neoplasm of the stomach, Abnormal hard palate morphology, Tongue nodules, Esophageal neoplasm, Ne... |
ORPHA:1359 |
| Mowat-Wilson Syndrome |
|
Widely spaced teeth, Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucou... |
OMIM:235730 |
| Restrictive Dermopathy 1 |
|
Narrow mouth, Submucous cleft hard palate, Decreased calvarial ossification, Natal tooth |
OMIM:275210 |
| Restrictive Dermopathy |
|
Microcolon, Narrow mouth, Submucous cleft hard palate, Natal tooth |
ORPHA:1662 |
