Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Eosinophilia |
OMIM:248100 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Hernia of the abdominal wall |
ORPHA:3055 |
Halothane Hepatitis |
|
Obesity, Eosinophilia |
OMIM:234350 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Immunodeficiency 22 |
|
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Panniculitis |
OMIM:615758 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
Central Precocious Puberty |
|
Increased body weight, Obesity, Overgrowth |
ORPHA:759 |
Hyperostosis Frontalis Interna |
|
Obesity |
OMIM:144800 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71526 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Anemia, Increased body mass index, Omphalocele |
OMIM:614450 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity |
OMIM:617119 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity |
ORPHA:329249 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Immunodeficiency 17 |
|
Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B ce... |
OMIM:615607 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Macrocephaly/Autism Syndrome |
|
Obesity, Lymphopenia, Splenomegaly |
OMIM:605309 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79443 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Short Stature-Obesity Syndrome |
|
Obesity |
OMIM:269870 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Summitt Syndrome |
|
Obesity, Camptodactyly of finger, Tall stature |
ORPHA:3210 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity |
OMIM:614651 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... |
OMIM:619743 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Leptin Deficiency Or Dysfunction |
|
Obesity |
OMIM:614962 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration |
OMIM:307800 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Bardet-Biedl Syndrome 2 |
|
Obesity |
OMIM:615981 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Overgrowth, Large for gestational age, Umbilical hernia, Omphalocele |
ORPHA:254534 |
Joubert Syndrome 32 |
|
Large for gestational age, Tall stature |
OMIM:617757 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Obesity Due To Sim1 Deficiency |
|
Obesity |
ORPHA:369873 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity |
OMIM:609734 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Cellulitis, Decreased proportion of transit... |
ORPHA:331235 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hypouricemia |
OMIM:616026 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241530 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased body weight, Small for gestational age |
OMIM:274300 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity |
OMIM:612463 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Large for gestational age, Umbilical hernia, Neutropenia, Anemia, Thrombocytop... |
OMIM:614520 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Hypercalcemia |
OMIM:239200 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity |
OMIM:618822 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Abcd Syndrome |
|
Large for gestational age, Polycythemia |
OMIM:600501 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... |
ORPHA:508533 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight, Dorsocervical fat pad |
OMIM:615830 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity |
OMIM:610628 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Wilson Disease |
|
Failure to thrive, Splenomegaly, Weight loss, Increased body weight, Anemia, Thrombocytopenia |
ORPHA:905 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Leptin Receptor Deficiency |
|
Obesity |
OMIM:614963 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity |
OMIM:615812 |
Obesity Due To Congenital Leptin Deficiency |
|
Obesity, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Overweight, Hiatus hernia, Umbilical hernia |
OMIM:619769 |
Thyrotoxic Periodic Paralysis |
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Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... |
ORPHA:79102 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Bardet-Biedl Syndrome 6 |
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Obesity |
OMIM:605231 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Obesity, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Dent Disease 1 |
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Hypophosphatemia |
OMIM:300009 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Elevated hemoglobin A1c, Obesity |
OMIM:618620 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... |
ORPHA:3337 |
Infantile Nephropathic Cystinosis |
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Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
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Obesity |
OMIM:600122 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Increased body weight |
OMIM:300860 |
Smith-Magenis Syndrome |
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Increased body weight |
OMIM:182290 |
Pgm3-Cdg |
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Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... |
ORPHA:443811 |
Congenital Analbuminemia |
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Obesity, Lipodystrophy, Small for gestational age |
ORPHA:86816 |
Opsismodysplasia |
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Hypophosphatemia |
OMIM:258480 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
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Obesity |
OMIM:194072 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Large for gestational age, Increased body weight |
ORPHA:263455 |
Fibrous Dysplasia Of Bone |
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Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Insulinoma |
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Increased body weight |
ORPHA:97279 |
Dent Disease |
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Elevated circulating creatine kinase concentration, Renal hypophosphatemia |
ORPHA:1652 |
Mccune-Albright Syndrome |
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Hypophosphatemia |
ORPHA:562 |
Raine Syndrome |
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Hypophosphatemia |
OMIM:259775 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Fructose Intolerance, Hereditary |
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Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia |
OMIM:229600 |
Parathyroid Carcinoma |
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Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Cystinosis, Nephropathic |
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Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carniti... |
OMIM:219800 |
Low Phospholipid-Associated Cholelithiasis |
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Obesity, Overweight, Liver abscess |
ORPHA:69663 |
Aregenerative Anemia |
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Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Mody |
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Large for gestational age, Obesity, Overweight, Elevated hemoglobin A1c |
ORPHA:552 |
Pearson Syndrome |
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Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Hyperalaninemia |
ORPHA:699 |
Primary Pigmented Nodular Adrenocortical Disease |
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Abdominal obesity, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue... |
ORPHA:189439 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Abdominal obesity, Increased body weight, Dorsocervical fat pad |
ORPHA:189427 |
Joubert Syndrome 39 |
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Overweight, Joint contracture of the 5th finger |
OMIM:619562 |
Sotos Syndrome |
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Increased body weight, Overgrowth, Tall stature |
OMIM:117550 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Splenomegaly, Abnormal erythrocyte enzyme level, Increased body weight, Anemia |
ORPHA:264580 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia |
ORPHA:534 |
Hellp Syndrome |
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Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular hemoglobin concen... |
ORPHA:244242 |
Autosomal Recessive Malignant Osteopetrosis |
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Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Hypophosphatemic Rickets |
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Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Adrenocortical Carcinoma |
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Increased body weight, Weight loss |
ORPHA:1501 |
Bloom Syndrome |
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Abdominal obesity, Abnormal proportion of CD8-positive T cells, Small for gestational age, Absces... |
ORPHA:125 |
X-Linked Hypophosphatemia |
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Hypophosphatemia |
ORPHA:89936 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Increased body weight, Anemia, Splenomegaly |
ORPHA:79240 |
Insulin-Resistance Syndrome Type B |
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Decreased body weight, Leukopenia, Increased body weight, Weight loss, Thrombocytopenia, Abnormal... |
ORPHA:2298 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Magel2-Related Prader-Willi-Like Syndrome |
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Abdominal obesity, Increased body weight, Failure to thrive, Flexion contracture |
ORPHA:398069 |
Cushing Disease |
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Abdominal obesity, Lymphopenia, Leukocytosis, Truncal obesity, Increased body weight, Dorsocervic... |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Abdominal obesity, Lymphopenia, Leukocytosis, Truncal obesity, Increased body weight, Weight loss... |
ORPHA:99889 |
Carney Complex |
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Abdominal obesity, Increased body weight, Dorsocervical fat pad, Tall stature |
ORPHA:1359 |