Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Immunodeficiency 17 |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Acromegaloid Facial Appearance Syndrome |
|
Large for gestational age |
OMIM:102150 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Macrosomia Adiposa Congenita |
|
Obesity, Eosinophilia, Large for gestational age |
OMIM:248100 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
ORPHA:293964 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... |
OMIM:617241 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... |
ORPHA:169154 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Halothane Hepatitis |
|
Obesity, Eosinophilia |
OMIM:234350 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Immunodeficiency 22 |
|
Failure to thrive, Panniculitis, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Autism, Susceptibility To, 18 |
|
Overweight, Tall stature |
OMIM:615032 |
Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
Hyperostosis Frontalis Interna |
|
Obesity |
OMIM:144800 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Failure to thrive |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Failure to thrive |
ORPHA:71526 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Anemia, Increased body weight |
OMIM:614450 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Abdominal obesity |
OMIM:615980 |
Abcd Syndrome |
|
Large for gestational age |
OMIM:600501 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune... |
ORPHA:911 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity |
ORPHA:329249 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Macrocephaly/Autism Syndrome |
|
Obesity, Lymphopenia, Splenomegaly |
OMIM:605309 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Short Stature-Obesity Syndrome |
|
Obesity |
OMIM:269870 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity |
OMIM:615703 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Summitt Syndrome |
|
Obesity, Camptodactyly of finger, Tall stature |
ORPHA:3210 |
Leptin Deficiency Or Dysfunction |
|
Obesity |
OMIM:614962 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity |
OMIM:614651 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Large for gestational age |
OMIM:601165 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia |
ORPHA:254534 |
Joubert Syndrome 32 |
|
Large for gestational age, Tall stature |
OMIM:617757 |
Bardet-Biedl Syndrome 2 |
|
Obesity |
OMIM:615981 |
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Obesity Due To Sim1 Deficiency |
|
Obesity |
ORPHA:369873 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity |
OMIM:609734 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:2233 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decreased proportion of transiti... |
ORPHA:331235 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Reduced natural killer cell count, Decreased proportion of CD4-posi... |
OMIM:619510 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity |
ORPHA:2183 |
Pseudopseudohypoparathyroidism |
|
Obesity, Enamel hypoplasia |
OMIM:612463 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Thrombocytopenia, Umbilical he... |
OMIM:614520 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity |
OMIM:610628 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity |
OMIM:618822 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... |
ORPHA:508533 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Overgrowth, Large for gestational age, Tall stature |
ORPHA:137634 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Dorsocervical fat pad, Increased body weight |
OMIM:615830 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age |
ORPHA:45452 |
Wilson Disease |
|
Failure to thrive, Weight loss, Anemia, Splenomegaly, Thrombocytopenia, Increased body weight |
ORPHA:905 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Leptin Receptor Deficiency |
|
Obesity |
OMIM:614963 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity |
OMIM:615812 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity |
OMIM:615986 |
Carpenter Syndrome |
|
Obesity, Polysplenia, Umbilical hernia |
ORPHA:65759 |
Obesity Due To Congenital Leptin Deficiency |
|
Obesity, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Senior-Loken Syndrome 9 |
|
Obesity |
OMIM:616629 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Obesity |
OMIM:600122 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Obesity, Eunuchoid habitus |
ORPHA:2234 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity, Achilles tendon contracture |
OMIM:615418 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Obesity |
ORPHA:34527 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Elevated hemoglobin A1c |
OMIM:618620 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Obesity |
OMIM:194072 |
Congenital Analbuminemia |
|
Obesity, Lipodystrophy, Small for gestational age |
ORPHA:86816 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Large for gestational age |
ORPHA:263455 |
Insulinoma |
|
Increased body weight |
ORPHA:97279 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity |
OMIM:615300 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Obesity, Overweight |
ORPHA:69663 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age |
OMIM:616026 |
Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribution, Abdominal obesity, Increase... |
ORPHA:189439 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Dorsocervical fat pad, Abdominal obesity, Increased body weight |
ORPHA:189427 |
Mody |
|
Obesity, Elevated hemoglobin A1c, Large for gestational age, Overweight |
ORPHA:552 |
Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Overweight |
OMIM:619562 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Anemia, Increased body weight, Splenomegaly, Abnormal erythrocyte enzyme level |
ORPHA:264580 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Small for gestational ... |
ORPHA:125 |
Hellp Syndrome |
|
Microangiopathic hemolytic anemia, Increased body weight, Thrombocytopenia, Hemolytic anemia, Dec... |
ORPHA:244242 |
Adrenocortical Carcinoma |
|
Weight loss, Increased body weight |
ORPHA:1501 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Increased body weight, Splenomegaly |
ORPHA:79240 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Leukopenia, Weight loss, Thrombocytopenia, Decreased body weight, Inc... |
ORPHA:2298 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Increased body weight, Flexion contracture, Abdominal obesity |
ORPHA:398069 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
Cushing Disease |
|
Leukocytosis, Dorsocervical fat pad, Truncal obesity, Abdominal obesity, Lymphopenia, Decreased e... |
ORPHA:96253 |
Gaisböck Syndrome |
|
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... |
ORPHA:90041 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Weight loss, Dorsocervical fat pad, Truncal obesity, Abdominal obesity, Lymphopenia... |
ORPHA:99889 |
Carney Complex |
|
Dorsocervical fat pad, Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |