Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Cervical ribs, Dextrocardia |
ORPHA:66630 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... |
OMIM:614779 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totali... |
OMIM:616749 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypopla... |
OMIM:613686 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Persistent left super... |
OMIM:314390 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Dextrocardia, Situs inversus totalis |
OMIM:617577 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Dextrocardia, Missing ribs, Duodenal stenosis, Abnormal tricuspid valve m... |
ORPHA:1759 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Patent... |
OMIM:619657 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Dextrocardia |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal rib morphology, Abnormal h... |
ORPHA:1666 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Poland Syndrome |
|
Dextrocardia, Short ribs, Rib fusion, Hemivertebrae |
OMIM:173800 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Atrial septal defect, Ventricular septal defect, D... |
OMIM:270100 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia |
ORPHA:2863 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Gastroesophageal reflux, Dextrocardia |
OMIM:615482 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia |
OMIM:606763 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy |
OMIM:613807 |
Renpenning Syndrome |
|
High, narrow palate, Abnormal rib morphology, Cleft palate, Heterotaxy, Anal atresia |
ORPHA:3242 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Rib fusion, Cleft palate, Abnormal heart morphology, Abnormal aor... |
ORPHA:261197 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615444 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Colonic Atresia |
|
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Aortic root aneurysm, Scoliosis, Pulmoni... |
OMIM:609008 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Marden-Walker Syndrome |
|
Dextrocardia, Short neck, Kyphosis, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinge... |
OMIM:248700 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect... |
OMIM:264480 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent... |
OMIM:261600 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79444 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Short neck, Intestinal ... |
ORPHA:99776 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79443 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Abnormal pulmonary artery morphology, Cleft palate |
ORPHA:2257 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Dextrocardia, Cleft palate, Scoliosis, Abnormal vertebral morphology |
ORPHA:220493 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Thoracolumbar scoliosis, Tracheoesophageal fistula, High palate, Spina bifida occulta |
ORPHA:2437 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... |
ORPHA:99125 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Kyphosis, Pyloric stenosis, Subm... |
ORPHA:2461 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Kyphosis, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... |
OMIM:619123 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Cystinosis |
|
Hypokalemia, Polydipsia, Abnormal repetitive mannerisms, Hypophosphatemia |
ORPHA:213 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Abdominal situs ambiguus |
OMIM:617092 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Malabsorption, Anteriorly placed anus, Abnormal cardiac septum morphology, Anal atr... |
ORPHA:2315 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Gastroesophageal reflu... |
OMIM:249270 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis |
OMIM:612518 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Short neck, High, narrow palate, Abnormal heart morphology, Scoliosis, Tetralogy of... |
ORPHA:96092 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Atrial septal def... |
OMIM:277380 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Short neck, Cleft palate, Coronary artery fistula, Abnor... |
OMIM:614294 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation |
ORPHA:340 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus |
OMIM:618699 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Proteus Syndrome |
|
Kyphoscoliosis, Spinal canal stenosis, Venous malformation |
OMIM:176920 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis |
OMIM:614017 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... |
OMIM:618846 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus |
OMIM:614874 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Kyphoscolios... |
ORPHA:536545 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Poland Syndrome |
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Dextrocardia, Short neck, Missing ribs, Kyphosis, Hemivertebrae, Abnormal rib morphology, Vertebr... |
ORPHA:2911 |
Catel-Manzke Syndrome |
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Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Cleft palate, Coarctation ... |
OMIM:616145 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Knobloch Syndrome |
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Pyloric stenosis, Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Distal Duplication 5Q |
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Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Meacham Syndrome |
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Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Vitamin D-Dependent Rickets, Type 2A |
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Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Fanconi Renotubular Syndrome 2 |
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Hypophosphatemia |
OMIM:613388 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
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Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Klippel-Trénaunay Syndrome |
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Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Venous insufficiency, Patent ductu... |
ORPHA:90308 |
Familial Multiple Nevi Flammei |
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Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Scoliosis |
ORPHA:624 |
Gjc2-Related Late-Onset Primary Lymphedema |
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Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Neurooculorenal Syndrome |
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Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of... |
OMIM:620305 |
Oncogenic Osteomalacia |
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Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Infantile Nephropathic Cystinosis |
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Polydipsia, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Carpenter Syndrome 2 |
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Dextrocardia, Short neck, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, ... |
OMIM:614976 |
Truncus Arteriosus |
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Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Wolf-Hirschhorn Syndrome |
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Rib segmentation abnormalities, Sacral dimple, Abnormal heart valve morphology, Kyphosis, Rib fus... |
ORPHA:280 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
Familial Visceral Myopathy |
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Aganglionic megacolon, Abdominal situs inversus, Cleft palate |
ORPHA:2604 |
Microphthalmia, Syndromic 2 |
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Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Submu... |
OMIM:300166 |
Tetrasomy 9P |
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Sacral dimple, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Missing ribs, Sh... |
ORPHA:3310 |
Restrictive Dermopathy |
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Thoracic kyphoscoliosis, Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, Thi... |
ORPHA:1662 |
Fanconi-Bickel Syndrome |
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Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
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Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Hereditary Fructose Intolerance |
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Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Thoracoabdominal Syndrome |
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Patent ductus arteriosus, Transposition of the great arteries, Cleft palate, Ectopia cordis |
OMIM:313850 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Parkes Weber Syndrome |
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Back pain, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid he... |
ORPHA:90307 |
Enlarged Parietal Foramina |
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Cleft palate, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Dent Disease 1 |
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Hypophosphatemia |
OMIM:300009 |
Angioosteohypotrophic Syndrome |
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Prominent superficial veins, Venous malformation |
ORPHA:75508 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Thoracic kyphoscoliosis, Thoracic scoliosis, High, narrow palate, Mitral valve prolapse, Aortic d... |
ORPHA:1900 |
Cystinosis, Nephropathic |
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Hyponatremia, Oral-pharyngeal dysphagia, Hypomagnesemia, Reduced blood urea nitrogen, Hypophospha... |
OMIM:219800 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, ... |
OMIM:619534 |
Varicose Veins |
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Varicose veins |
OMIM:192200 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Alport Syndrome 3A, Autosomal Dominant |
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Azotemia, Hypophosphatemia |
OMIM:104200 |
Familial Hypocalciuric Hypercalcemia |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:99880 |
Opsismodysplasia |
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Hypophosphatemia |
OMIM:258480 |
Parathyroid Carcinoma |
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Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:143 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypophosphatemia, Self-injurious behavior, Hypokalemia, Compulsive b... |
ORPHA:534 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
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Varicose veins, Venous malformation |
OMIM:613089 |
Constricting Bands, Congenital |
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Cleft palate, Ectopia cordis, Scoliosis |
OMIM:217100 |
Milroy Disease |
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Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Fibrous Dysplasia Of Bone |
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Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Hallermann-Streiff Syndrome |
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High, narrow palate, Glossoptosis, Rib exostoses, Abdominal situs inversus, Short ribs |
ORPHA:2108 |
Kaposi Sarcoma |
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Venous insufficiency, Abnormality of the gastrointestinal tract |
ORPHA:33276 |
Pearson Syndrome |
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Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia |
ORPHA:699 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
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Venous insufficiency, Arteriovenous malformation |
ORPHA:137608 |
Mccune-Albright Syndrome |
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Hypophosphatemia |
ORPHA:562 |
Raine Syndrome |
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Hypophosphatemia |
OMIM:259775 |
Limb Body Wall Complex |
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Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality of the vertebral ... |
ORPHA:2369 |
Foix-Alajouanine Syndrome |
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Back pain, Low back pain, Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Fructose Intolerance, Hereditary |
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Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Floating-Harbor Syndrome |
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11 pairs of ribs, Kyphoscoliosis, Short neck, Celiac disease, Coarctation of aorta, Atrial septal... |
OMIM:136140 |
Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Floating-Harbor Syndrome |
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11 pairs of ribs, Kyphoscoliosis, Short neck, Mesocardia, Celiac disease, Coarctation of aorta, G... |
ORPHA:2044 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Dent Disease |
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Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Autosomal Recessive Malignant Osteopetrosis |
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Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Scoliosis, Abnormal venous morphology, Abnormal cerebral vascular morphology |
ORPHA:276280 |
Glomuvenous Malformation |
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Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
X-Linked Hypophosphatemia |
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Hypophosphatemia |
ORPHA:89936 |
Livedoid Vasculopathy |
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Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke |
ORPHA:542643 |
Occipital Horn Syndrome |
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Hiatus hernia, Venous insufficiency, Kyphosis, High, narrow palate, Abnormal esophagus physiology... |
ORPHA:198 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
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Scoliosis, Venous malformation |
OMIM:612918 |
Menkes Disease |
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Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial... |
ORPHA:565 |
Clapo Syndrome |
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Varicose veins, Venous malformation |
ORPHA:168984 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Scoliosis, Cerebral hemorrhage |
ORPHA:221061 |
Proteus-Like Syndrome |
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Venous insufficiency |
ORPHA:2969 |
Microphthalmia With Limb Anomalies |
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Venous insufficiency, Cleft palate, High palate, Abnormal form of the vertebral bodies |
ORPHA:1106 |
Hypermobile Ehlers-Danlos Syndrome |
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Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Ascending t... |
ORPHA:285 |
Norrie Disease |
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Venous insufficiency, Scoliosis |
ORPHA:649 |