Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
Retinitis Pigmentosa 24 |
|
Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Choroidal Dystrophy, Central Areolar, 3 |
|
Drusen, Chorioretinal atrophy |
OMIM:613144 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait disturbance, Pares... |
ORPHA:2398 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance |
ORPHA:140941 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II diabetes mellitus, Child... |
ORPHA:71529 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Reduced intraabdominal adipose tissue... |
ORPHA:363400 |
Adiposis Dolorosa |
|
Depression, Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity |
OMIM:615703 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age |
OMIM:256450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Emotional lability, Obesity |
OMIM:309585 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Lipodystrophy, Lipoatrophy |
OMIM:613877 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Insulin resistance, Hyperinsulinemia, Obesity |
OMIM:617885 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Narcolepsy Type 1 |
|
Transient global amnesia, Obesity |
ORPHA:2073 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... |
OMIM:612526 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abdominal obesity, Diabetes mellitus, Lipodystrophy |
OMIM:615980 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Obesity, Aggressive behavior |
OMIM:620270 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Cogniti... |
ORPHA:369873 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Increased body wei... |
ORPHA:276608 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short attention span, Obesity, Fasting hypoglycemia |
ORPHA:171706 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Polyphagia, Failure t... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Polyphagia, Failure t... |
ORPHA:71526 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Po... |
OMIM:614963 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... |
ORPHA:324575 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Insulin-resistant diabetes mellitus,... |
ORPHA:435660 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance,... |
ORPHA:73272 |
Intellectual Developmental Disorder, X-Linked 108 |
|
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:301024 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Lipodystrophy, Increased intraabdominal fat |
ORPHA:79085 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Aggressive behavior, Large for gestational age, Self-injurious behavior, Agitation |
OMIM:616116 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
Bardet-Biedl Syndrome 5 |
|
Obesity, Cognitive impairment |
OMIM:615983 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Progressive neurologic deterioration, Insulin resistance, Flexion cont... |
OMIM:214150 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... |
ORPHA:411515 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures... |
ORPHA:276580 |
Mehmo Syndrome |
|
Small for gestational age, Hypoglycemia, Aggressive behavior, Inability to walk, Obesity, Gait at... |
OMIM:300148 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment |
ORPHA:459033 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, Hyperinsulinemia, Prop... |
ORPHA:528 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... |
ORPHA:293964 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... |
ORPHA:97279 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Insulin resistance, Dysmetria, Trun... |
OMIM:616541 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe... |
OMIM:604360 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Insulin resistanc... |
OMIM:615381 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Depression, Emotional lability |
OMIM:615830 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Maternal diabetes, ... |
ORPHA:79083 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Insu... |
ORPHA:2348 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:2298 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue |
ORPHA:199276 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem... |
ORPHA:276575 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Depression, Abdominal obesity, Increased body weight, Hyperglycemia |
OMIM:615954 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes mellitus, A... |
OMIM:274300 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul... |
OMIM:618124 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance |
ORPHA:90301 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Whipple Disease |
|
Ataxia, Cachexia, Anorexia, Insulin resistance, Depression, Polydipsia |
ORPHA:3452 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity |
ORPHA:589905 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Progressive neurologic deterioration, Large for gestational age, Hyperinsulinemia, Increased body... |
ORPHA:263455 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Flexion contracture, Obesity, Choreoathetosis, Shuffling gait, Bruxism, Emo... |
OMIM:300055 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Obesity, Low frustration tolera... |
ORPHA:163681 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... |
ORPHA:100924 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Obesity, Depression, Cognitive impairment, Memory impairment |
ORPHA:77296 |
Idiopathic Intracranial Hypertension |
|
Abnormal emotion, Obesity, Depression |
ORPHA:238624 |
Werner Syndrome |
|
Lipoatrophy, Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Slender build, Chondro... |
ORPHA:902 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Dysphagia, Failure to t... |
OMIM:613327 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... |
ORPHA:411511 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment |
OMIM:616267 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia |
ORPHA:813 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Emotional lability, Polyphagia |
ORPHA:179494 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... |
ORPHA:79086 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity |
OMIM:615981 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Insulin resistance, Obesity, Truncal obesity, Abdominal obesity, Gait ... |
OMIM:209900 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... |
ORPHA:98794 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... |
OMIM:182290 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... |
ORPHA:769 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Depression, Difficulty w... |
ORPHA:905 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Joubert Syndrome 32 |
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Ataxia, Tall stature, Large for gestational age |
OMIM:617757 |
Laurence-Moon Syndrome |
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Ataxia, Obesity |
OMIM:245800 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Dorsocervical fat pad, Increased body weight, Depression, Memory impairment, Glucose intolerance,... |
ORPHA:189427 |
Lipodystrophy, Familial Partial, Type 2 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Memory impairment, Dementia... |
ORPHA:2822 |
Hepatic Veno-Occlusive Disease |
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Increased body weight |
ORPHA:890 |
Seckel Syndrome 10 |
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Diabetes mellitus, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Glycosuria |
OMIM:617253 |
Monosomy 13Q34 |
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Insulin resistance, Obesity |
ORPHA:96168 |
13Q12.3 Microdeletion Syndrome |
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Hyperactivity, Congenital diaphragmatic hernia, Impaired pain sensation, Obesity, Camptodactyly, ... |
ORPHA:412035 |
Aromatase Deficiency |
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Eunuchoid habitus, Insulin resistance, Obesity, Type II diabetes mellitus, Tall stature |
ORPHA:91 |
Marbach-Rustad Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Cidec-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Insulin-resistant diabetes mellitus,... |
ORPHA:435651 |
Adiposis Dolorosa |
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Memory impairment, Paresthesia, Obesity, Depression |
ORPHA:36397 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Small for gestational age, Insulin resistance, Fasting hypoglycemia, Oral aversion, Failure to th... |
ORPHA:96182 |
Proprotein Convertase 1/3 Deficiency |
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Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Obesity Due To Congenital Leptin Deficiency |
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Polyphagia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:66628 |
Congenital Myopathy 9A |
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Obesity, Akinesia |
OMIM:618822 |
Wagro Syndrome |
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Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Emotion... |
OMIM:612469 |
Perrault Syndrome 4 |
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Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia |
OMIM:615300 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
Gitelman Syndrome |
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Salt craving, Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ketoacidosis, ... |
ORPHA:358 |
Bloom Syndrome |
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Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... |
ORPHA:125 |
Steinert Myotonic Dystrophy |
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Short attention span, Diabetes mellitus, Oral-pharyngeal dysphagia, Aggressive behavior, Inabilit... |
ORPHA:273 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
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Diabetes mellitus, Obesity |
OMIM:610628 |
Narcolepsy 7 |
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Type II diabetes mellitus, Obesity |
OMIM:614250 |
Pituitary Adenoma 4, Acth-Secreting |
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Impaired glucose tolerance, Obesity, Glucose intolerance, Abdominal obesity, Emotional lability |
OMIM:219090 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity |
OMIM:264120 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Magel2-Related Prader-Willi-Like Syndrome |
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Impulsivity, Impaired temperature sensation, Flexion contracture, Increased body weight, Abdomina... |
ORPHA:398069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
Bardet-Biedl Syndrome 6 |
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Diabetes mellitus, Obesity |
OMIM:605231 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Recurrent infantile hy... |
ORPHA:508 |
Adrenocortical Carcinoma |
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Irritability, Diabetes mellitus, Increased body weight, Weight loss |
ORPHA:1501 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Polyphagia, Obesity, Hypoglycemic seizures |
OMIM:609734 |
Sotos Syndrome |
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Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent... |
OMIM:117550 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture |
ORPHA:90153 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Neonatal hypoglycemia, Large for gestation... |
ORPHA:79644 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age |
OMIM:616026 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
Cushing Disease |
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Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Increased body weight, Depr... |
ORPHA:96253 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Absence of subcutaneous fat, Weight loss, Shuffling gait, Severe failure to t... |
ORPHA:740 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Recurrent hypoglycemia, Fasting hypoglycemia, Increased body weight, Ketotic hypoglycemia |
ORPHA:79240 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Hypoglycemia, Increased body weight, Fasting hypoglycemia |
ORPHA:264580 |
Joubert Syndrome 39 |
|
Overweight, Pain insensitivity, Joint contracture of the 5th finger |
OMIM:619562 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Emotion... |
ORPHA:353281 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Anorexia, Increased body we... |
ORPHA:99889 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... |
ORPHA:353277 |
Alström Syndrome |
|
Somatic sensory dysfunction, Ataxia, Dorsocervical fat pad, Insulin resistance, Hyperinsulinemia,... |
ORPHA:64 |
Pmm2-Cdg |
|
Multiple joint contractures, Ataxia, Lipodystrophy, Insulin resistance, Abnormal subcutaneous fat... |
ORPHA:79318 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Carney Complex |
|
Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature |
ORPHA:1359 |