Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:608631 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... |
ORPHA:276608 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71526 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Obesity, Childhood-onset t... |
ORPHA:71529 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Cognitive impairment, Obesity, Attention deficit hyperactivity disorder, Hyp... |
ORPHA:369873 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Lipoatroph... |
ORPHA:79084 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight |
OMIM:613375 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Progressive psychomotor deterioration, Insulin resistance, Cognitive impairment, Re... |
ORPHA:363400 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discharges, Fasting hyperinsulin... |
ORPHA:35878 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... |
ORPHA:276556 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Attention deficit hyperactivity disor... |
ORPHA:3000 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... |
OMIM:604367 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Atypical scarring of skin, O... |
ORPHA:791 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Obesity, ... |
ORPHA:3085 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Ataxia, Abnormal testis morphology, Abn... |
ORPHA:1227 |
Perlman Syndrome |
|
Hepatomegaly, Tall stature, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism, Ingui... |
ORPHA:2849 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance |
ORPHA:140941 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity, Cognitive impairment |
OMIM:615989 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Lipodystrophy, Hepatic steatosis, Abdominal obesity, Diabetes mellitus |
OMIM:615980 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:151660 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Pre... |
ORPHA:79237 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... |
OMIM:246200 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity, Cognitive impairment |
OMIM:615987 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Reduced sperm motility, Ataxia, Truncal ataxia, Abnormal ... |
ORPHA:320391 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... |
OMIM:260370 |
Hyperostosis Frontalis Interna |
|
Obesity, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
47,Xyy Syndrome |
|
Oligospermia, Hypospadias, Macroorchidism, Azoospermia, Attention deficit hyperactivity disorder,... |
ORPHA:8 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity, Cognitive impairment |
OMIM:615983 |
Estrogen Resistance Syndrome |
|
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... |
ORPHA:785 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Narcolepsy Type 1 |
|
Obesity, Transient global amnesia |
ORPHA:2073 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Cognitive impairment |
OMIM:615995 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche, Insulin resistance |
OMIM:614662 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Broad-b... |
OMIM:614450 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Imbalanced hemoglobin synthesis, Infertility, Abnormal T... |
ORPHA:330015 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Insulin-resis... |
OMIM:608612 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity, Cryptorchidism |
ORPHA:85274 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, EEG abnormality, Delayed puberty |
ORPHA:2139 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... |
ORPHA:399805 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Gonadotropin defici... |
OMIM:609734 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis |
OMIM:602579 |
Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Inability to walk, Male hypogonadism, Difficulty walking... |
OMIM:300148 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Polycystic o... |
ORPHA:79086 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Mehmo Syndrome |
|
Obesity, Cryptorchidism, EEG abnormality, Diabetes mellitus |
ORPHA:85282 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Contractures involving the joints of the feet, Hepatomegaly, Decreased motor nerve conduction vel... |
ORPHA:456312 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean corp... |
OMIM:615234 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-bas... |
ORPHA:248111 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical carcinoma, Adrenocortical cytomegaly, Overgrowth, Omphalocele, Hepatomegaly, Cardi... |
OMIM:130650 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic... |
OMIM:608594 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism,... |
ORPHA:79319 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus |
ORPHA:65288 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Reduced sperm motility |
OMIM:602271 |
Central Precocious Puberty |
|
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... |
ORPHA:759 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... |
OMIM:248370 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic... |
OMIM:269700 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Ataxia, Infertility, Azoospermia |
OMIM:613909 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity, Cognitive impairment |
OMIM:615993 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Flexion contrac... |
OMIM:616222 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Dorsocervica... |
OMIM:615830 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Increased circu... |
ORPHA:189439 |
Hemochromatosis, Type 2A |
|
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Lethargy |
OMIM:602390 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Failure to thrive, Lipodystrophy, Splenomegaly, Hepatic steatos... |
OMIM:613327 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity, Precocious puberty, EEG with centrotemporal focal spike waves |
ORPHA:217377 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... |
ORPHA:261529 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Visceromegaly |
OMIM:601165 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... |
OMIM:203800 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Dystonia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypog... |
ORPHA:453533 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity, Cryptorchidism, Decreased testicular size |
OMIM:610628 |
Myotonic Dystrophy 2 |
|
Oligospermia, Decreased circulating IgG level, Hypogonadism, Decreased circulating total IgM |
OMIM:602668 |
Blue Diaper Syndrome |
|
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... |
ORPHA:94086 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Congenital hepatic fibrosis, Ataxia, Obesity, Cryptorchidism |
ORPHA:2377 |
Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Decreased r... |
OMIM:614963 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Neo... |
ORPHA:71212 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Polysplenia, ... |
OMIM:613807 |
Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Cryptorchidism, Obe... |
ORPHA:254516 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased testicular size, Decreased serum leptin |
OMIM:614962 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Interictal epileptiform activity, EEG with generalized epileptiform discharges, EEG... |
ORPHA:163681 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... |
OMIM:176270 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism, Torticollis |
OMIM:314300 |
Pseudopseudohypoparathyroidism |
|
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism, Cognitive impairment |
OMIM:612463 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased body weight, Jaundice |
ORPHA:890 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Overweight, Diabetes mellitus, Flexion contracture, Hypothyroidism, EEG abnorm... |
ORPHA:391372 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased ... |
ORPHA:99832 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Suicidal ideation, Irritability, Anhedonia, Emotional lability, Diminished moti... |
ORPHA:96369 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, ... |
ORPHA:69663 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Large for gestational age |
OMIM:248100 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, EEG abnormality, Broad-based gait, Obesity |
ORPHA:411515 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Focal EEG discharges with secondary generalization, Shuffling gait, Hyperactivity... |
ORPHA:3077 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Congenital hypothyroidism, Hyperactivity, Diabetes mellitus, Obesity, Cryptorchidism |
OMIM:614613 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... |
OMIM:609069 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Dystonia, Cognitive impairment, Ataxia, Obesity |
ORPHA:459033 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Macroorchidism, Spastic gait, Shuffling gait, Bradykinesia, EEG with generalized slow a... |
OMIM:300055 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... |
ORPHA:769 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Infertility, Macroorchidism, postpubertal, Amenorrhea, Abnormality of the menstrual... |
ORPHA:91348 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Unsteady gait, Obesity, Premature ovarian insufficiency |
OMIM:618124 |
Morgagni-Stewart-Morel Syndrome |
|
Cognitive impairment, Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abn... |
ORPHA:77296 |
Halothane Hepatitis |
|
Viral hepatitis, Obesity, Hepatitis, Jaundice |
OMIM:234350 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity, Cognitive impairment |
OMIM:615985 |
Woodhouse-Sakati Syndrome |
|
Dystonia, Streak ovary, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hypogonad... |
ORPHA:3464 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Cognitive impairment, Hypoplasia of the ovary, Decreased serum est... |
OMIM:615300 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm |
OMIM:612650 |
48,Xxyy Syndrome |
|
Type II diabetes mellitus, Tall stature, Abnormal dental enamel morphology, Ataxia, Cryptorchidis... |
ORPHA:10 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity, Cryptorchidism |
OMIM:615982 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Azoospermia, Hypogonadotropic hypogonadism, Cryptorchidism, Precocious puberty |
OMIM:300200 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Insulin resistance, Failure to thrive... |
ORPHA:508 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Poor eye contact |
ORPHA:444002 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the p... |
ORPHA:2470 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity |
OMIM:615996 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Cognitive impairment, Hypogonadism, Enamel hypopl... |
OMIM:612462 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Biliary tract abnormality, Type II diabetes mellitus, Inguinal hernia |
ORPHA:3191 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Insulin resistance |
OMIM:617885 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... |
ORPHA:2234 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... |
OMIM:615630 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty |
ORPHA:141333 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... |
ORPHA:226313 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... |
ORPHA:905 |
Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:614935 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Cognitive impairment, Hypogonadism, Enamel hypopl... |
OMIM:103580 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Hyperglycemia, Contractures of the joints of the lower limbs, Failure to t... |
ORPHA:99885 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Large for gestational age |
OMIM:600501 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Anemia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Hepat... |
ORPHA:85450 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Small for gestational age |
OMIM:615935 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Obesity, Crypto... |
ORPHA:96184 |
Smith-Magenis Syndrome |
|
Hyperactivity, Increased body weight, EEG abnormality, Abnormality of the thyroid gland |
OMIM:182290 |
Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Small for gestational age, Goiter, Hyperactivity, Hyperthyroidism |
OMIM:609152 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Precocious puberty |
OMIM:604931 |
Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Xerostomia, Absen... |
ORPHA:398069 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity, Crypto... |
ORPHA:412035 |
Gapo Syndrome |
|
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea |
ORPHA:2067 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Congenital hypothyroidism, Hepatic fibrosis, Splenic cyst, P... |
OMIM:610199 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity, Cryptorchidism, Akinesia |
OMIM:618822 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Thyroid hyperplasia, Goiter, Small for gestational age, Weight loss, Hyperactivity, Hyperthyroidi... |
ORPHA:424 |
Atypical Werner Syndrome |
|
Ovarian neoplasm, Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin... |
ORPHA:79474 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
Bloom Syndrome |
|
Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Azoosper... |
ORPHA:125 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Oligomenorrhea, Hypogonadism, Amenorrhea |
ORPHA:91351 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries |
OMIM:184700 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Obesity |
OMIM:301013 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Cognitive impairment, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis ... |
ORPHA:457059 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... |
OMIM:615710 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Hypogonadism, Hyperactivity, EEG abnormality, Broad-based gait, Camptodactyly of finger... |
ORPHA:85293 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Premature adrenar... |
ORPHA:398079 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Failure to t... |
ORPHA:264580 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Gait imbalance, Hepatic fibrosis, Insulin resistance, Truncal obesity, ... |
OMIM:209900 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:226307 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Gait disturbance, Insulin resistance, Cognit... |
ORPHA:273 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... |
ORPHA:2235 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia |
ORPHA:244 |
Yellow Fever |
|
Jaundice, Acute pancreatitis, Pancreatic hyperplasia |
ORPHA:99829 |
Familial Gestational Hyperthyroidism |
|
Thyroid hyperplasia, Goiter, Weight loss, Hyperactivity, Hyperthyroidism, Activating thyroid-stim... |
ORPHA:99819 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Polycystic ovarie... |
ORPHA:79240 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism |
ORPHA:363741 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Obesity, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... |
ORPHA:99413 |
Turner Syndrome |
|
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... |
ORPHA:881 |
Mosaic Monosomy X |
|
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... |
ORPHA:99228 |
Monosomy X |
|
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... |
ORPHA:99226 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility, Polysplenia |
OMIM:619608 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Waddling gait, Clitoral hypoplasia |
OMIM:614813 |
Pituitary Adenoma 4, Acth-Secreting |
|
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Abdominal obesity, Obesity, I... |
OMIM:219090 |
Cushing Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Dementia, Increased circulating cortisol l... |
ORPHA:96253 |
Macrocephaly/Autism Syndrome |
|
Obesity, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pseudohermaphroditism, Pre... |
ORPHA:786 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:177901 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... |
ORPHA:93111 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity |
ORPHA:412 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Neoplasm of the thymus, Small intestine ... |
ORPHA:99889 |
Trigeminal Neuralgia |
|
Episodic paroxysmal anxiety, Allodynia |
ORPHA:221091 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Tall stature, Insulin resistance, Eunuch... |
ORPHA:91 |
Sheehan Syndrome |
|
Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decreased circulat... |
ORPHA:91355 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:398073 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital hypothyroidism, Pancreatic hypoplasia, Small for gestational age, Failure to thrive, C... |
ORPHA:2255 |
Meningioma |
|
Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Tr... |
ORPHA:2495 |
Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Anterior p... |
ORPHA:3157 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia |
ORPHA:254534 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Fused labia majora, Increased size of the clitoris, Abnormal external ... |
ORPHA:95699 |
Adiposis Dolorosa |
|
Xerostomia, Obesity, Memory impairment, Hypothyroidism |
ORPHA:36397 |
Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Ataxia, Hepatomegaly, Obesity |
OMIM:612291 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Abnormal dental enamel morphology, Obesity, Anhidrosis, De... |
ORPHA:251004 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Small for gestational age, Jaundice, Overweight, Obesity,... |
ORPHA:26793 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Abse... |
ORPHA:556955 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Flexion contracture of toe, Hypergonadotropic hypogonadism, ... |
OMIM:602782 |
Dopa-Responsive Dystonia |
|
Abnormal social behavior |
ORPHA:255 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Gait disturbance, Dementia, Ataxia, Inability to walk, Overweight, Mental deterioration, Obesity,... |
ORPHA:2822 |
Craniopharyngioma |
|
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... |
ORPHA:54595 |
Kallmann Syndrome |
|
Gait disturbance, Hypogonadotropic hypogonadism, Ataxia, Hypothalamic gonadotropin-releasing horm... |
ORPHA:478 |
Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... |
OMIM:601346 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Hyperact... |
ORPHA:280651 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, EEG with occipital focal spikes, EEG with central focal spikes, Chole... |
OMIM:301066 |
17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus |
ORPHA:261265 |
Distal Monosomy 12Q |
|
Failure to thrive in infancy, Unilateral cryptorchidism, Annular pancreas, Maturity-onset diabete... |
ORPHA:96149 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Type II diabetes mellitus |
OMIM:618620 |
Alström Syndrome |
|
Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentration, Primary ... |
ORPHA:64 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Hepatic steatosis, Choleste... |
ORPHA:209902 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Increased body weight |
OMIM:300860 |
Neurotrophic Keratopathy |
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Allodynia |
ORPHA:137596 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
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Obesity, Cryptorchidism, Streak ovary |
OMIM:194072 |
Renal Cysts And Diabetes Syndrome |
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Pancreatic hypoplasia, Maturity-onset diabetes of the young, Glucose intolerance, Impaired glucos... |
OMIM:137920 |
Perlman Syndrome |
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Congenital diaphragmatic hernia, Large for gestational age, Pancreatic islet-cell hyperplasia, Cr... |
OMIM:267000 |
Lamb-Shaffer Syndrome |
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Abnormal social behavior |
ORPHA:530983 |
Carney Complex |
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Thyroid carcinoma, Sertoli cell neoplasm, Increased circulating cortisol level, Papillary thyroid... |
ORPHA:1359 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Pancreatic hypoplasia, Hyperglycemia, Congenital diaphragmatic hernia, Failure to thrive, Aplasia... |
OMIM:600001 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly, Umbilical hernia, Tall stature, C... |
ORPHA:116 |
Tenorio Syndrome |
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Gait disturbance, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Tetrasomy 9P |
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Oligospermia, Infertility, Pachygyria, Hyperactivity, Micropenis, Polymicrogyria, Cryptorchidism,... |
ORPHA:3310 |
Benign Schwannoma |
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Allodynia |
ORPHA:252164 |
Pmm2-Cdg |
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Hepatic fibrosis, Insulin resistance, Failure to thrive, Hypogonadotropic hypogonadism, Abnormal ... |
ORPHA:79318 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Congenital Analbuminemia |
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Obesity, Lipodystrophy, Small for gestational age |
ORPHA:86816 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Obesity, Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta |
OMIM:619269 |
Shwachman-Diamond Syndrome |
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Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Hypopituitarism, Exocr... |
ORPHA:811 |
Autosomal Dominant Polycystic Kidney Disease |
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Reduced sperm motility |
ORPHA:730 |
Thyrotoxic Periodic Paralysis |
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Thyrotoxicosis with toxic single thyroid nodule, Weight loss, Thyrotoxicosis with toxic multinodu... |
ORPHA:79102 |
Digeorge Syndrome |
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Parathyroid agenesis, Inguinal hernia, Cholelithiasis, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior |
ORPHA:1020 |
Childhood Absence Epilepsy |
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Abnormal social behavior |
ORPHA:64280 |
Bardet-Biedl Syndrome 20 |
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Obesity, Bilateral cryptorchidism, Male hypogonadism, Pancreatitis |
OMIM:619471 |
Gaisböck Syndrome |
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Obesity, Overweight, Diabetes mellitus, Cholecystitis, Increased circulating renin level |
ORPHA:90041 |
Dextrocardia |
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Abnormality of abdominal situs, Abnormality of the spleen, Pancreatic hypoplasia |
ORPHA:1666 |
Fg Syndrome Type 1 |
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Abnormal social behavior |
ORPHA:93932 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Cholelithiasis, Biliary hyperplasia, Cont... |
ORPHA:83617 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormal social behavior |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormal social behavior |
ORPHA:309263 |
48,Xxxy Syndrome |
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Abnormal social behavior |
ORPHA:96263 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormal social behavior |
ORPHA:309271 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia, Peritonitis |
ORPHA:2968 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Abnormal social behavior |
ORPHA:1675 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Overfriendliness, Abnormal social behavior |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Overfriendliness, Abnormal social behavior |
ORPHA:363958 |
Mend Syndrome |
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Abnormal social behavior |
ORPHA:401973 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Abnormal social behavior |
ORPHA:314647 |
Tuberous Sclerosis Complex |
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Abnormal social behavior |
ORPHA:805 |
Niemann-Pick Disease Type C |
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Abnormal social behavior |
ORPHA:646 |
Williams Syndrome |
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Overfriendliness, Abnormal social behavior |
ORPHA:904 |