Gene: Mchr1 MGI:2180756

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

melanin-concentrating hormone receptor 1
melanin-concentrating hormone receptor 1,  MCH-1R,  Gpr24-9,  Mch1r,  Gpr24

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mchr1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mchr1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Social and occupational deterioration, EEG abnormality OMIM:181500
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Osteoporosis OMIM:166710
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Osteopenia, Camptodactyly, Joint contracture of the hand OMIM:264010
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility ORPHA:3294
Immunodeficiency 12
Osteoporosis OMIM:615468
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Elevated circulating C-reactive protein concentration, ... ORPHA:57196
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Recurrent fractures OMIM:256720
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Growth delay, Pituitary hypothyroidism, Cent... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Growth delay, Pituitary hypothyroidism, Cent... ORPHA:71526
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Short stature, Obesity ORPHA:329249
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Intrau... ORPHA:99886
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Obesity Due To Sim1 Deficiency
Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Hyaline Fibromatosis Syndrome
Osteoporosis, Progressive flexion contractures, Osteolysis, Osteopenia OMIM:228600
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Weight loss, Adrenocorticotropic hormone exce... ORPHA:100083
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration OMIM:619256
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
Isolated Glycerol Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:408
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Obesity, Adrenal insufficiency, Adrenoco... OMIM:609734
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreatic islet h... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Polyphagia, Syncope, Tachycardia, Large for gestational age, Hypertrophic... ORPHA:276556
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, O... OMIM:614963
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreati... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Graves Disease, Susceptibility To, 1
Congestive heart failure, Polyphagia, Weight loss, Hyperactivity OMIM:275000
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Hypophosphatemia OMIM:612287
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity, Hyperactivity, Broad-based gait ORPHA:411515
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Lethargy, Weight loss ORPHA:30925
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Ceroid Lipofuscinosis, Neuronal, 6
Motor deterioration, Abnormal nervous system electrophysiology OMIM:601780
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Mental Retardation, Autosomal Recessive 66
Shyness, Aggressive behavior OMIM:618221
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint laxity OMIM:616033
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Hypophosphatemia OMIM:612286
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gl... ORPHA:97279
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Forsythe-Wakeling Syndrome
Osteoporosis OMIM:613606
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Narcolepsy 7
Narcolepsy OMIM:614250
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Temple Syndrome
Polyphagia, Decreased response to growth hormone stimuation test, Postnatal growth retardation, S... ORPHA:254516
Huntington Disease
Inability to walk, Choking episodes, Decreased body mass index, Dystonia, Polyphagia, Difficulty ... ORPHA:399
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Hemochromatosis Type 2
Osteoporosis, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elev... ORPHA:79230
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2410
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hyperzincemia With Functional Zinc Depletion
Osteoporosis, Increased serum zinc OMIM:601979
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
Pulmonary Blastoma
Weight loss ORPHA:64741
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Weight loss ORPHA:3389
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Increased serum serotonin, Hyperactivity ORPHA:85288
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Recurrent fractures, Joint laxity OMIM:248010
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Decreased body weight, Pulmonic stenosi... OMIM:616201
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Dysphagia, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Immunodeficiency 8
Hyperactivity OMIM:615401
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis OMIM:166230
6Q16 Microdeletion Syndrome
Polyphagia, Broad-based gait, Obesity ORPHA:171829
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Elevated circulating creatine kinase concentration, Joint laxity OMIM:614727
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Generalized osteoporosis OMIM:613849
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Central Diabetes Insipidus
Lethargy, Weight loss, Failure to thrive, Diabetes insipidus, Polydipsia ORPHA:178029
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Schaaf-Yang Syndrome
Inability to walk, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contrac... OMIM:615547
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Juvenile Paget Disease
Osteoporosis, Recurrent fractures, Hyperuricemia, Coarse metaphyseal trabecularization, Cranial h... ORPHA:2801
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Tachycardia, Increased body weight ORPHA:276608
Tachycardia, Hypertension OMIM:602079
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age, Hyperactivity OMIM:609152
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Lipodystrophy, Abnormal l... ORPHA:300751
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Polyphagia, Failure to thrive, Decreased response to growth hormo... OMIM:606407
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Weight loss ORPHA:95626
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Decreased circulat... OMIM:610600
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis ORPHA:79303
Shashi-Pena Syndrome
Osteoporosis OMIM:617190
Variegate Porphyria
Tachycardia OMIM:176200
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteoporosis, Osteopenia OMIM:617810
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Bruck Syndrome 1
Osteoporosis, Joint laxity, Increased susceptibility to fractures, Knee flexion contracture, Hip ... OMIM:259450
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis OMIM:309610
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ... ORPHA:280356
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures OMIM:126550
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Camptodactyly, Knee flexion contracture, Joint ... OMIM:214150
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Pick Disease Of Brain
Polyphagia OMIM:172700
Hypotension, Tachycardia OMIM:236800
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... ORPHA:556037
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Weight loss OMIM:613239
Mulibrey Nanism
Intrauterine growth retardation, Cachexia, Short stature ORPHA:2576
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Frontotemporal Dementia
Polyphagia OMIM:600274
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Weight loss OMIM:188580
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... ORPHA:556030
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Reduced bone mineral density, Symmetric polyarthritis, Elevated circulating C-reactive... ORPHA:85435
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder OMIM:615538
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia, Hyperlipidemia ORPHA:369
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia, Osteopenia ORPHA:99879
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis ORPHA:1525
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Increased adipose tissue around the neck, L... ORPHA:435660
Thrombocytopenia 6
Osteoporosis, Myelofibrosis OMIM:616937
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Insulin-resistant diabetes m... ORPHA:79085
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati... ORPHA:320
Moynahan Syndrome
Hypogonadism, Cachexia, Short stature ORPHA:2574
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Overweight, Lethargy, Ventricular tachycardia, Atrioventricular block, Ventricular fi... ORPHA:26793
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Malignant Hyperthermia, Susceptibility To, 1
Malignant hyperthermia, Hypotension, Fever, Tachycardia OMIM:145600
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Glycerol Kinase Deficiency
Osteoporosis, Hypertriglyceridemia, Pathologic fracture OMIM:307030
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Hypertriglyceridemia,... ORPHA:435651
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis ORPHA:79301
Duchenne And Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Reduced bone mineral density, Joint stiffness ORPHA:262
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Dysphagia, Weight loss, Primary hyperparathyroidism, Nodul... ORPHA:1332
East Syndrome
Inability to walk, Difficulty walking, Hyperaldosteronism, Increased circulating renin level, Ata... ORPHA:199343
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98754
2Q23.1 Microdeletion Syndrome
Polyphagia, Ataxia, Hyperactivity ORPHA:228402
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98793
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177904
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Osteopenia, Fractures of the long bones ORPHA:319195
Hyperglycemia, Hyperinsulinemia OMIM:616214
Truncal obesity, Polyphagia, Broad-based gait ORPHA:397941
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177901
Bruck Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Recurrent fractures, Joint stiffness ORPHA:2771
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinemia, Recurrent fractures, Hyperuricemia, Increased bone mi... OMIM:239000
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Perrault Syndrome 1
Osteoporosis OMIM:233400
Menkes Disease
Osteoporosis, Joint laxity OMIM:309400
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Insulin-resistant diabetes me... OMIM:262190
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Lethargy, Polyphagia, Premature pubarche, Premature adrenarche, Central hypoth... ORPHA:398079
Juvenile Neuronal Ceroid Lipofuscinosis
Non-periodic recurrent fever, Dysphagia, Loss of ability to walk, Tachycardia ORPHA:79264
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Malignant Hyperthermia, Susceptibility To, 5
Fever, Tachycardia OMIM:601887
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Polyphagia, Premature pubarche, Premature adrenarche, Decrea... ORPHA:398073
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Polyphagia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipo... OMIM:608594
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Dysphagia, Hypertension, Tachycardia, Fever, Bradycardia ORPHA:3299
Histiocytoid Cardiomyopathy
Lethargy, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachyc... ORPHA:137675
Snakebite Envenomation
Pseudobulbar paralysis, Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Neuro... ORPHA:449285
Prader-Willi Syndrome
Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gla... ORPHA:739
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Huntington Disease-Like 2
Weight loss ORPHA:98934
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Joint laxity ORPHA:2788
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Polyphagia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipo... OMIM:269700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Osteolysis, Flexion contrac... OMIM:614008
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Failure to thrive, Dilated car... OMIM:300952
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Insulin resistance ORPHA:79084
Isaac Syndrome
Weight loss ORPHA:84142
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, Hyperact... ORPHA:248111
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Lipoatrophy, Lipodystrophy, Weight loss, Type I diabetes mellitus, Cachexia,... ORPHA:1979
Lipodystrophy, Congenital Generalized, Type 4
Dysphagia, Flexion contracture, Atrial fibrillation, Lipodystrophy, Tachycardia, Prolonged QT int... OMIM:613327
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Lichtenstein Syndrome
Osteoporosis, Increased susceptibility to fractures OMIM:246550
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Steatorrhea, Weight loss, Primary hypothyroidism, Failure to ... ORPHA:95427
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Osteoporosis OMIM:612463
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Hypocholesterolemia OMIM:266510
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Sialidosis Type 2
Osteoporosis, Flexion contracture ORPHA:87876
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Polydipsia, Adrenal hyperplasia, Glucocortocoid-insensitive primary h... ORPHA:251274
Prader-Willi Syndrome
Hyperinsulinemia, Polyphagia, Failure to thrive in infancy, Obesity, Adrenal insufficiency, Delay... OMIM:176270
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Osteoarthritis, Limitation of joint mobility, Synostosis of carpal bones ORPHA:93351
Gitelman Syndrome
Palpitations, Chondrocalcinosis, Hypotension, Ataxia, Ventricular tachycardia, Salt craving, Prol... OMIM:263800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Nephrogenic diabetes insipidus, Hypothyroidism, Gait disturbance, Delayed puberty, Type I diabete... ORPHA:213
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Lethargy, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic... ORPHA:398069
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Cranioectodermal Dysplasia
Osteoporosis, Joint hyperflexibility, Craniosynostosis ORPHA:1515
Fructose-1,6-Bisphosphatase Deficiency
Fever, Tachycardia, Lethargy OMIM:229700
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Osteolysis invo... ORPHA:73
Osteoporosis, Bone cyst, Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Ab... ORPHA:2583
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Joint stiffness, Joint contracture of the hand, Osteoarthr... OMIM:208230
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Corneal scarring, Tachycardia, Fever, Bradycardia OMIM:614653
Hall-Riggs Mental Retardation Syndrome
Osteoporosis OMIM:234250
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Weight loss ORPHA:2126
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia, Athetosis, Polydipsia ORPHA:369929
Angelman Syndrome
Inability to walk, Polyphagia, Dysphagia, Delayed menarche, Ataxia, Precocious puberty in females... ORPHA:72
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Small for gestational age, Failure to thrive, Hyperactivity OMIM:609425
Pigmented Villonodular Synovitis
Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Osteolysis ORPHA:66627
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79444
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Amish Lethal Microcephaly
Osteoporosis, Limitation of joint mobility, Decreased skull ossification ORPHA:99742
Indolent Systemic Mastocytosis
Osteoporosis ORPHA:98848
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis ORPHA:189427
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Refractory Celiac Disease
Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Hyperaldosteronism, Increased circulating renin level, Ataxia, Salt craving, ... OMIM:612780
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block... OMIM:212138
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Hypertension, Obesity ORPHA:251004
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Short statu... ORPHA:3085
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Ataxia, Hypertriglyceridemi... ORPHA:363400
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Central diabetes insipidus OMIM:304900
Hemochromatosis, Type 1
Osteoporosis, Increased serum iron, Increased circulating ferritin concentration OMIM:235200
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Flexion contracture of toe, Recurrent fractures ORPHA:3409
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Recurrent fractures OMIM:619131
Idiopathic Congenital Hypothyroidism
Hypothermia, Bradycardia, Lethargy, Umbilical hernia ORPHA:95717
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Obesity, Cardiogenic shock, Syncope, Decreased QR... ORPHA:66529
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Congenital Disorder Of Glycosylation, Type It
Malignant hyperthermia, Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Aborted sudden... OMIM:614921
Primary Pigmented Nodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189439
Mixed-Type Autoimmune Hemolytic Anemia
Fever, Tachycardia ORPHA:90036
Erythrokeratodermia Variabilis
Diabetes mellitus, Short stature, Weight loss ORPHA:317
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Hypertriglyceridemia, Flexion contracture OMIM:615381
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Fever, Capillary leak ORPHA:542323
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Osteoarthritis OMIM:618000
Hirschsprung Disease
Neoplasm of the thyroid gland, Short stature, Weight loss, Failure to thrive in infancy ORPHA:388
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive pr... ORPHA:231580
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Impulsivity, Aggressive behavior ORPHA:101039
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Failure to thrive in infancy ORPHA:264675
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:1486
Dopa-Responsive Dystonia
Depression, Abnormal social behavior, Agoraphobia, Emotional lability, Fatigable weakness, Panic ... ORPHA:255
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Primary hyperparathyroidism, Elevated circulating parathyroid horm... OMIM:239200
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tachycardia, Increased body weight, Lethargy ORPHA:263455
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
16P12.1P12.3 Triplication Syndrome
Attention deficit hyperactivity disorder, Tachycardia, Failure to thrive, Hyperactivity ORPHA:485405
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of ... OMIM:604367
Polyphagia, Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hy... ORPHA:54595
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Autoimmune Hemolytic Anemia, Warm Type
Fever, Tachycardia, Congestive heart failure ORPHA:90033
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia ORPHA:172
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony... OMIM:300554
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Diabetes Insipidus, Nephrogenic, X-Linked
Diabetes insipidus, Polydipsia, Failure to thrive OMIM:304800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification... OMIM:600081
Sotos Syndrome 3
Hyperactivity OMIM:617169
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79443
Proteus Syndrome
Facial hyperostosis, Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Nephrogenic diabetes insipidus, Failure to thrive OMIM:125800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Luscan-Lumish Syndrome
Polyphagia, Obesity OMIM:616831
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... OMIM:614022
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Dystonia, Gait ataxia, Gait disturbance, Ataxia, Oral-pharyngeal dysphagia, V... OMIM:616878
Xp21 Deletion Syndrome
Osteoporosis, Joint laxity, Reduced bone mineral density, Hypertriglyceridemia, Elevated circulat... ORPHA:261476
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Fever, Tachycardia ORPHA:3392
Familial Cold Urticaria
Polydipsia ORPHA:47045
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Hypermethioninemia, Generalized osteoporosis, Hyperhomocystinemia, Limitation of jo... OMIM:236200
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Lethargy, Ventricular tachycardia OMIM:600649
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Osteolysis involving bon... ORPHA:371428
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Huntington Disease-Like 2
Weight loss OMIM:606438
Mental Retardation, Autosomal Dominant 1
Polyphagia, Ataxia OMIM:156200
Sickle Cell Anemia
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Ost... ORPHA:232
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Weight loss, Impaired oropharyngeal swallow response ORPHA:98897
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Contractures of the interphalangeal joint of the thumb OMIM:613870
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:605373
Sepsis In Premature Infants
Temperature instability, Hypotension, Decreased body weight, Small for gestational age, Tachycard... ORPHA:90051
Primary Parathyroid Hyperplasia
Parathyroid hyperplasia, Chondrocalcinosis, Dysphagia, Primary hyperparathyroidism, Elevated circ... ORPHA:99878
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Werner Syndrome
Osteoporosis OMIM:277700
Spondylo-Ocular Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:85194
Aredyld Syndrome
Abnormal dental enamel morphology, Lipoatrophy, Type I diabetes mellitus, Cachexia, Type II diabe... ORPHA:1133
Rett Syndrome
Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Increased serum leptin, Bradyk... ORPHA:778
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia OMIM:610489
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dysphagia, Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Joint stiffness, Increa... ORPHA:2176
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Premature adrenarche, Polydipsia, Central hypothyroidism, Decreased response to growt... ORPHA:293987
Mandibuloacral Dysplasia
Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Increase... ORPHA:2457
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Hypokalemia OMIM:267200
Geroderma Osteodysplasticum
Osteoporosis, Camptodactyly, Recurrent fractures, Increased susceptibility to fractures, Osteopen... OMIM:231070
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Hyperphosp... OMIM:617994
African Iron Overload
Osteoporosis, Elevated hepatic iron concentration, Increased circulating ferritin concentration, ... ORPHA:139507
Estrogen Resistance Syndrome
Osteoporosis, Osteopenia, Delayed epiphyseal ossification ORPHA:785
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia, Hypophosphatemia OMIM:613388
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Rickets, Joint hyperflexibility, Osteomalacia, Joint stiffness, Osteopenia ORPHA:1901
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased circulating androgen concentration, Insulin-resistant diabetes mellitus... ORPHA:769
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
7Q11.23 Microduplication Syndrome
Polyphagia, Aortic valve stenosis, Inguinal hernia, Unsteady gait, Dysmetria, Congenital diaphrag... ORPHA:96121
Parathyroid Carcinoma
Parathyroid carcinoma, Chondrocalcinosis, Dysphagia, Weight loss, Abnormality of the parathyroid ... ORPHA:143
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Postnata... OMIM:246200
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Polydipsia, Abnormality of ... ORPHA:3157
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Lethargy, Hypotension, Ventricular tachycardia, Hypothermia, Cardiomyopathy ORPHA:159
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Decreased body weight, Hyperactivity OMIM:618342
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Osteolytic defects of the phalanges of the hand, Osteopenia, Limitation of joint mo... OMIM:259100
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Developmental And Epileptic Encephalopathy 78
Poor eye contact, Hypothermia OMIM:618557
Paragangliomas 1
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:168000
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Stif... ORPHA:465508
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Truncal ataxia, Joint contracture of the 5th finger, Atrioventricular block, Failure to... OMIM:614407
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Riboflavin Transporter Deficiency
Dysphagia, Diabetes insipidus, Hypogonadism, Cachexia ORPHA:97229
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Congenital Fibrinogen Deficiency
Fever, Tachycardia, Internal hemorrhage ORPHA:335
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Focal Myositis
Weight loss ORPHA:48918
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Dysphagia, Hypertensive crisis, Hypertension, Pulmonary embolism, Oculog... ORPHA:94093
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Dysphagia, Weight loss, Nodular goiter ORPHA:142
Hodgkin Lymphoma
Weight loss ORPHA:98293
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Classic Galactosemia
Osteoporosis, Reduced bone mineral density ORPHA:79239
Stiff-Person Syndrome
Fever, Tachycardia, Hypertension OMIM:184850
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Recurrent fractures, Thin bony cortex, Delay... OMIM:241530
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest, Lethargy ORPHA:49827
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Delayed ossification of carpal bones OMIM:184260
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Cachexia, Severe short stature OMIM:610965
Beta-Thalassemia Intermedia
Osteoporosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Reduced bone ... ORPHA:231222
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Failure to thrive OMIM:619048
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Mercury Poisoning
Hypotension, Dystonia, Tachycardia, Hypertension ORPHA:330021
Propionic Acidemia
Osteoporosis, Hyperammonemia, Hyperglycinemia OMIM:606054
Wilson Disease
Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis, High nonceruloplasmin-bound seru... OMIM:277900
Illum Syndrome
Temperature instability, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy