Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Obesity |
|
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio |
OMIM:601665 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
No social interaction, Polyphagia, Aggressive behavior, Obesity, Impaired social interactions |
ORPHA:329249 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Irritability, Polydipsia, Lethargy |
ORPHA:30925 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Aggressive behavior |
OMIM:616521 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Poor eye contact, Polyphagia |
OMIM:613886 |
Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Polyphagia, Suicidal ideation, Lack of peer rel... |
ORPHA:96369 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Cough, Dysphagia |
ORPHA:70482 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Weight loss, Anxiety, Lethargy |
ORPHA:178029 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Emotional lability |
OMIM:309585 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Tall stature |
OMIM:618406 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Gait disturbance |
ORPHA:436141 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Self-injurious behavior, Aggressive behavior, Attention deficit hyp... |
OMIM:613670 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality |
OMIM:617519 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Recurrent pneumonia, Abnormal eating behavior, Polyphagia |
OMIM:614962 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder, Recurrent sinusitis |
OMIM:300310 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Polyphagia |
ORPHA:71529 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:617119 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Abnormal eating behavior, Hyperactivity, Abnormal social behavior, Anxiety |
ORPHA:101039 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Anxiety, Poor eye contact, Abnormal social behavior, Obesity, Attention deficit hyperactivity dis... |
ORPHA:444002 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
Leptin Receptor Deficiency |
|
Obesity, Aggressive behavior, Abnormal eating behavior, Polyphagia |
OMIM:614963 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Respiratory insufficiency, Large for gestational age |
ORPHA:2432 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Cough |
ORPHA:99976 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Obesity |
OMIM:616756 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Obesity, Anxiety |
OMIM:618725 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Polydipsia, Polyphagia, Truncal obesity |
OMIM:615986 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Abnormal social behavior, Agoraphobia, Inability to wal... |
ORPHA:255 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Nephronophthisis-Like Nephropathy 2 |
|
Cough, Polydipsia, Bronchiectasis |
OMIM:619468 |
Autism, Susceptibility To, 18 |
|
Anxiety, Overweight, Tall stature |
OMIM:615032 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
Adiposis Dolorosa |
|
Obesity, Anxiety |
OMIM:103200 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Obesity, Anxiety |
OMIM:301013 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Obesity, Childhood-onset truncal obesity, Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Obesity, Childhood-onset truncal obesity, Polyphagia |
ORPHA:71526 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Irritability, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Irritability, Polydipsia |
OMIM:304800 |
Luscan-Lumish Syndrome |
|
Shyness, Overgrowth, Polyphagia, Aggressive behavior, Obesity, Anxiety |
OMIM:616831 |
Pediatric-Onset Graves Disease |
|
Mood swings, Polyphagia, Polydipsia, Failure to thrive, Hyperactivity, Irritability, Neonatal asp... |
ORPHA:525731 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Polyphagia |
OMIM:609734 |
6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia, Broad-based gait |
ORPHA:171829 |
Brain-Lung-Thyroid Syndrome |
|
Dystonia, Abnormal drinking behavior, Neonatal respiratory distress, Failure to thrive, Pulmonary... |
ORPHA:209905 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Dysphagia, Spastic gait, Ataxia, Tip-toe gait, Obesity |
OMIM:604360 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Increased body weight |
ORPHA:890 |
Angelman Syndrome Due To A Point Mutation |
|
Dysphagia, Happy demeanor, Gait imbalance, Abnormal eating behavior, Ataxia, Broad-based gait, Ob... |
ORPHA:411511 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Polyphagia |
ORPHA:177910 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... |
ORPHA:52368 |
Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
Myofibrillar Myopathy 11 |
|
Dysphagia, Reduced forced vital capacity, Overweight |
OMIM:619178 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Large for gestational age, Lethargy |
ORPHA:276556 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Polyphagia, Small for gestational age, Large for gestational age |
ORPHA:324575 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Aggressive behavior, Self-mutilation, Poor eye contact, Hyperactivity, Ataxia, Low ... |
ORPHA:163681 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Spastic gait, Apnea, Shuffling gait, Bradykinesia, Ataxia, Emotional lability, Obesity |
OMIM:300055 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity, Obstructive sleep apnea, Akinesia |
OMIM:618822 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Idiopathic Intracranial Hypertension |
|
Obesity, Abnormal emotion/affect behavior, Lethargy |
ORPHA:238624 |
1P21.3 Microdeletion Syndrome |
|
Shyness, Self-injurious behavior, Aggressive behavior, Self-mutilation, Abnormal eating behavior,... |
ORPHA:293948 |
East Syndrome |
|
Polydipsia, Salt craving, Ataxia, Inability to walk, Difficulty walking |
ORPHA:199343 |
Insulinoma |
|
Anxiety, Polyphagia, Increased body weight, Lethargy |
ORPHA:97279 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Large for gestational age, Lethargy |
ORPHA:276575 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Dystonia, Obesity, Ataxia |
ORPHA:459033 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Large for gestational age, Lethargy |
ORPHA:276580 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Lethargy |
ORPHA:276608 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Happy demeanor, Gait imbalance, Abnormal eating behavior, Hyperactivity, Ataxia, Broad... |
ORPHA:98794 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia |
OMIM:304900 |
Bardet-Biedl Syndrome 17 |
|
Obesity, Polydipsia |
OMIM:615994 |
Cystinosis |
|
Failure to thrive, Gait disturbance, Polydipsia |
ORPHA:213 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Polydipsia |
ORPHA:403 |
13Q12.3 Microdeletion Syndrome |
|
Obstructive sleep apnea, Failure to thrive, Self-mutilation, Hyperactivity, Obesity |
ORPHA:412035 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self-mutilation, Head-banging, Increased body weight |
OMIM:182290 |
Adult Krabbe Disease |
|
Urinary incontinence, EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Joubert Syndrome 32 |
|
Ataxia, Large for gestational age, Tall stature |
OMIM:617757 |
Obesity-Hypoventilation Syndrome |
|
Obesity, Hypoventilation |
OMIM:257500 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Pulmonary arterial hypertension, Epistaxis, Polydipsia |
ORPHA:369929 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Whipple Disease |
|
Cachexia, Respiratory insufficiency, Polydipsia, Cough, Ataxia |
ORPHA:3452 |
Angelman Syndrome |
|
Dysphagia, Happy demeanor, Polyphagia, Self-injurious behavior, Aggressive behavior, Poor eye con... |
ORPHA:72 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Polydipsia |
ORPHA:251274 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obstructive sleep apnea, Polyphagia, Polydipsia, Self-injurious behavior, Aggressive behavior, Ce... |
ORPHA:293987 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Urinary urgency, Abnormality of somatosensory evoked potenti... |
ORPHA:99027 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Dyspnea, Tachypnea, Polydipsia |
OMIM:239200 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Pulmonary arterial hypertension |
OMIM:614651 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Charcot-Marie-Tooth Disease Type 1F |
|
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Wilson Disease |
|
Failure to thrive, Weight loss, Aggressive behavior, Difficulty walking, Increased body weight |
ORPHA:905 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Aggressive behavior, Increased body weight |
OMIM:300860 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity, Emotional lability, Polyphagia |
ORPHA:179494 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia |
OMIM:612780 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Polydipsia |
ORPHA:3157 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Polydipsia |
ORPHA:320 |
48,Xxxy Syndrome |
|
Anxiety, Tall stature, Attention deficit hyperactivity disorder, Irritability, Pulmonary embolism... |
ORPHA:96263 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Athetosis, Dystonia, Impaired oral bolus formation, Lingual dystonia, Small for gestational age, ... |
ORPHA:404454 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Gait disturbance, Dysphagia, Ataxia, Inability to walk, Emotional lability, Overweight, Obesity |
ORPHA:2822 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Polydipsia |
ORPHA:223 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Absent brainstem auditory responses, Macrotia, Hearing impairment, Abnormality of ... |
ORPHA:90321 |
Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Erdheim-Chester Disease |
|
Polydipsia, Weight loss, Cough, Ataxia, Dyspnea, Pleural effusion |
ORPHA:35687 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Skin-picking, Obstructive sleep apnea, Polyphagia, Failure to thrive, Central sleep apnea, Abdomi... |
ORPHA:398069 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Polydipsia |
ORPHA:231580 |
Gitelman Syndrome |
|
Failure to thrive, Ataxia, Salt craving, Polydipsia |
OMIM:263800 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Skin-picking, Obstructive sleep apnea, Polyphagia, Failure to thrive, Central sleep apnea, Abdomi... |
ORPHA:398079 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Senior-Boichis Syndrome |
|
Attention deficit hyperactivity disorder, Suicidal ideation, Aggressive behavior, Polydipsia |
ORPHA:84081 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Polydipsia, Weight loss, Cough, Respiratory distress, Restrictive ventilatory defect |
ORPHA:537 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Lethargy, Increased body weight, Large for gestational age |
ORPHA:263455 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Dysphagia, Abnormal pattern of respiration, Self-injurious behavior, Aggressive behavior, Truncal... |
ORPHA:466950 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Emotional lability, Increased body weight |
OMIM:615830 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:216400 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Wolfram Syndrome |
|
Ataxia, Central apnea, Respiratory insufficiency, Polydipsia |
ORPHA:3463 |
Joubert Syndrome 8 |
|
Obesity, Ataxia, Hyperventilation |
OMIM:612291 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:133540 |
Adrenocortical Carcinoma |
|
Weight loss, Irritability, Panic attack, Anxiety, Increased body weight |
ORPHA:1501 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Oligomeganephronia |
|
Polydipsia, Small for gestational age |
ORPHA:2260 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... |
ORPHA:909 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses |
ORPHA:79330 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Polydipsia |
OMIM:248250 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Respiratory insufficiency due to muscle weakness, Polydipsia |
ORPHA:18 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Polydipsia |
ORPHA:411629 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Emotional lability, Abdominal obesity, Increased body weight |
ORPHA:189427 |
Parathyroid Carcinoma |
|
Weight loss, Dysphagia, Polydipsia |
ORPHA:143 |
Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Failure to thrive in infancy, Dysphagia, Polydipsia |
OMIM:219800 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Emotional lability, Abdominal obesity, Increased body weight |
ORPHA:189439 |
Gitelman Syndrome |
|
Failure to thrive, Salt craving, Respiratory distress, Polydipsia |
ORPHA:358 |
Mend Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:401973 |
Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Polydipsia |
ORPHA:411634 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure |
ORPHA:731 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Polydipsia |
ORPHA:99880 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Increased body weight |
ORPHA:264580 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Pneumonia, Weight loss, Decreased body weight, Increased body weight |
ORPHA:2298 |
Proximal Renal Tubular Acidosis |
|
Failure to thrive, Polydipsia |
ORPHA:47159 |
Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Polydipsia, Small for gestational age |
OMIM:241200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight |
ORPHA:79240 |
Cushing Disease |
|
Suicidal ideation, Truncal obesity, Emotional lability, Abdominal obesity, Panic attack, Increase... |
ORPHA:96253 |
Hellp Syndrome |
|
Pleural effusion, Increased body weight |
ORPHA:244242 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Suicidal ideation, Weight loss, Truncal obesity, Emotional lability, Abdominal obesity, Panic att... |
ORPHA:99889 |
Carney Complex |
|
Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |