| Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard... |
OMIM:615961 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... |
OMIM:609698 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... |
OMIM:613370 |
| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Abnormality of body we... |
ORPHA:314811 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... |
OMIM:262700 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation |
OMIM:601410 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... |
OMIM:262400 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... |
ORPHA:314802 |
| Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
| Growth Hormone Insensitivity, Partial |
|
Decreased serum insulin-like growth factor 1, Short stature |
OMIM:604271 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
| 49,Xyyyy Syndrome |
|
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm... |
ORPHA:99330 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogona... |
ORPHA:465508 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... |
ORPHA:163971 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... |
ORPHA:446 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase... |
ORPHA:398069 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Lack of facial subcutaneous fat, Micrognathia, Microcyti... |
ORPHA:2959 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of puberta... |
OMIM:614837 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... |
OMIM:301033 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:739 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur... |
ORPHA:398079 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Post... |
ORPHA:453533 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Wolfram-Like Syndrome |
|
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... |
ORPHA:411590 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
| 49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Short stature, Hypoglycemia |
ORPHA:366 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Joint laxity, Synd... |
OMIM:305400 |
| Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Decreased serum testosterone c... |
OMIM:308700 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:98793 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Short stature |
ORPHA:329249 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:98754 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hypoglycemia, Hype... |
ORPHA:369 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:177904 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... |
ORPHA:90791 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:177901 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatic failure, Elevated circulating... |
OMIM:617872 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Premature birth, Small for ... |
ORPHA:254516 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| Slc35A2-Cdg |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo... |
ORPHA:356961 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
| Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Neoplasm of the anterior pituitary, R... |
ORPHA:2495 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Cognitive impairment... |
OMIM:615983 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... |
ORPHA:438274 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
OMIM:176270 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Ulnar deviation of the hand, Hypogonadotropic hypog... |
ORPHA:157954 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
| Temple Syndrome |
|
Small for gestational age, Hypertriglyceridemia, Short stature, Hypercholesterolemia, Maturity-on... |
OMIM:616222 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Short stature, Tapered finger, Cryptorchidism, Obesity, Hypogonadism, Microp... |
ORPHA:85274 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
| Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Polyhydramnios, Cryptorchidism, Decreased circulating luteinizing ... |
OMIM:619761 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Increased h... |
OMIM:261750 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypopla... |
ORPHA:2232 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Short toe, Hyperinsulinemia, Obesi... |
ORPHA:3085 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... |
OMIM:619048 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... |
ORPHA:280365 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsuli... |
OMIM:262190 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Hypogonadism, Obesity |
OMIM:615988 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:232400 |
| Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Small hand, Short foot, Truncal obesity, Hypogonadism, Intrauterin... |
ORPHA:261483 |
| Legg-CalvƩ-Perthes Disease |
|
Cartilage destruction, Short stature |
ORPHA:2380 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Hypogonadotropic hypogonadism, ... |
OMIM:612079 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Congenital Generalized Lipodystrophy |
|
Adipose tissue loss, Proportionate tall stature, Hepatic steatosis, Hepatomegaly, Insulin resista... |
ORPHA:528 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Moderate postnatal growth retarda... |
ORPHA:69076 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Essential Fructosuria |
|
Abnormal urine carbohydrate level, Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Short stature, Hypoglycemia, Small for gestational age, Micr... |
ORPHA:73272 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Short stature, External genital hypoplasia, Obesity, Renal cyst, Stage 5 chr... |
OMIM:615993 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... |
ORPHA:289548 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:168558 |
| Schaaf-Yang Syndrome |
|
Decreased fetal movement, Short stature, Rocker bottom foot, Impulsivity, Tapered finger, Fetal a... |
OMIM:615547 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95512 |
| Late-Onset Familial Hypoaldosteronism |
|
Fever, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circ... |
ORPHA:556037 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Decreased fetal movement, Hypogonadotropic hypogonadism, External genital hypoplasia, Short statu... |
ORPHA:177910 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Short stature, Maternal diabetes, Micrognathia, Cryptorchidism, Lon... |
ORPHA:1988 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,... |
OMIM:615160 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst, Polydactyly, Hypogonadism |
OMIM:615987 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Streak ovary, Premature ovarian insuffici... |
ORPHA:3464 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo... |
ORPHA:1772 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Hypercholesterolemia, Maturity-onset diabetes of the yo... |
ORPHA:96184 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... |
OMIM:300148 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Genu valgum, Small pituitary gland,... |
OMIM:614880 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Pes cavus, Pseudobul... |
ORPHA:101006 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... |
ORPHA:226313 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Pes planus, Tapered finger, Cryptorchidism, Obesity, Short foot, Pes cavus |
OMIM:309585 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Decreased liver function, H... |
ORPHA:79319 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
| Familial Partial Lipodystrophy, Kƶbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... |
OMIM:613986 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... |
ORPHA:85282 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Polyhydramnios, Recurrent hypoglycemia, Hypoalbuminemi... |
ORPHA:79324 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... |
OMIM:614736 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Fg Syndrome Type 1 |
|
Micrognathia, Generalized joint laxity, Compulsive behaviors, Atrial septal defect, Finger syndac... |
ORPHA:93932 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Recurrent fractures, Increased circulating gonadot... |
ORPHA:2410 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Ollier Disease |
|
Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multiple enchondr... |
ORPHA:296 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Cryptorchidism,... |
OMIM:301900 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Dysmenorrhea, Micrognathia, Microphallus, Clinodactyly of the 5th finger, Hypothyr... |
ORPHA:397590 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Intrauterine growth retar... |
ORPHA:26792 |
| 48,Xxyy Syndrome |
|
Pes planus, Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Talipes, Abnorm... |
ORPHA:10 |
| Aromatase Deficiency |
|
Osteopenia, Delayed epiphyseal ossification, Ambiguous genitalia, female, Hepatic steatosis, Male... |
ORPHA:91 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Pos... |
ORPHA:254531 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay, Hypogonadism, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
| Donohue Syndrome |
|
Postnatal growth retardation, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinem... |
OMIM:246200 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Decreased b... |
ORPHA:231140 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... |
OMIM:300604 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
| Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Bicuspid aortic valve, Micrognathia, Bilateral cryptor... |
OMIM:618156 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycemia, Postnatal gr... |
OMIM:616113 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Polydactyly, Hypogonadism, Polyph... |
OMIM:617119 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism |
OMIM:275100 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Short stature, Increas... |
ORPHA:243 |
| Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Flexion contracture, Renal cyst, Abnormality of the amniotic fluid, Hepatic fibrosis,... |
OMIM:212065 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Large hands, Umbilical hernia, Elevated hepatic transaminase, Ac... |
OMIM:269700 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased serum te... |
OMIM:201100 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy... |
ORPHA:785 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Micrognathia, Multiple prenatal fractures, Cardiomegaly, Flexion cont... |
OMIM:616897 |
| Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Hypothyroidism, Hepatic steatos... |
ORPHA:254346 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Large hands, Umbilical hernia, Elevated hepatic ... |
OMIM:608594 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... |
OMIM:246900 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Polyhydramnios, Micrognathia, Large for gestational age, Flexion con... |
ORPHA:96334 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short toe, Short metatarsal, Pseudohypoparathyroidism, Obesity, ... |
OMIM:103580 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased fetal movement, Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased respons... |
OMIM:606407 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Polyhydramnios, Ora... |
ORPHA:273 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Perrault Syndrome 1 |
|
Short stature, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonada... |
OMIM:233400 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, He... |
ORPHA:3055 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... |
ORPHA:2394 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Tachycardia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Memo... |
OMIM:619737 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
| Hydatidiform Mole |
|
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus, Anemia |
ORPHA:99927 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Elevated circulating thyroid-stimulating hormone concentration, ... |
OMIM:612462 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Repeated implantation failure, Miscarriage, Female infertility, Formation of multiple pronuclei d... |
OMIM:619176 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Multiple prenatal fractures, Patchy variation in bone m... |
OMIM:215140 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Reduced b... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Reduced b... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Reduced b... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, Reduced b... |
ORPHA:881 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Fever, Increased circulating cortisol level |
OMIM:614674 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... |
OMIM:270400 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:90794 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Abnormal morphology of ulna, Decreased fertility, Obesity, Mitral valve prolapse, ... |
ORPHA:2233 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Polyhydramnios, C... |
OMIM:607143 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia,... |
OMIM:249000 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism, Polyd... |
OMIM:615982 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... |
ORPHA:3409 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... |
OMIM:614613 |
| Timothy Syndrome |
|
Hypothyroidism, Hypothermia, Hypoglycemia |
OMIM:601005 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia |
OMIM:266150 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, P... |
ORPHA:2089 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, External genital hypo... |
OMIM:615996 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Postnatal growth retardation,... |
ORPHA:556030 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Wilson-Turner Syndrome |
|
Pes planus, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Micrognathia, Cryptorch... |
ORPHA:3459 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Zygotic cleavage failure |
OMIM:619011 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea |
OMIM:233300 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... |
ORPHA:300373 |
| Alg6-Cdg |
|
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... |
ORPHA:79320 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Short stature, Cryptorchidism, Conge... |
ORPHA:2377 |
| Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Short metatarsal, Elevated circulating parathyroid hormone level, Bilateral coxa va... |
ORPHA:439822 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:96263 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Growth delay, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Inc... |
OMIM:214700 |
| Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Clitoral hypoplasia, Atrial septal defe... |
ORPHA:97360 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Failu... |
ORPHA:289504 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... |
OMIM:251880 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... |
OMIM:618958 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp... |
OMIM:618120 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyperinsulinemic hyp... |
OMIM:602579 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, External genital hypoplasia, Postaxial hand polydactyly... |
OMIM:615981 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Cli... |
OMIM:201000 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Short stature, Hypo... |
OMIM:616026 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... |
ORPHA:2088 |
| Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Hepatic fibrosis, Hypoalbuminemia, Hepatomegaly, Hypospadias, Short stature, Incr... |
OMIM:222470 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Osteoporosis, Increased susceptibi... |
ORPHA:189427 |
| Silver-Russell Syndrome |
|
Micrognathia, Hyperhidrosis, Abnormal appendicular skeleton morphology, Recurrent hypoglycemia, C... |
ORPHA:813 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Erl... |
OMIM:610539 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Short stature, ... |
ORPHA:1667 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Obesity, Mitral valve prolapse, Azoospermia, Abnor... |
ORPHA:2183 |
| Short Stature, Brussels Type |
|
Short stature, Delayed epiphyseal ossification, Horseshoe kidney, Growth delay, Calcification of ... |
ORPHA:2867 |
| 15Q24 Microdeletion Syndrome |
|
Small for gestational age, Joint laxity, Hypospadias, Decreased response to growth hormone stimul... |
ORPHA:94065 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
| Chung-Jansen Syndrome |
|
Impulsivity, Tapered finger, Micrognathia, Cryptorchidism, Aggressive behavior, Obesity, Hip dysp... |
OMIM:617991 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir... |
OMIM:618838 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Progressive neurologic deterioration, Delayed epiphyseal ossification, ... |
OMIM:210710 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Hypogonadism, Clinodactyly |
OMIM:615984 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Hyperactivity, Hypospadias, Sandal gap, Short stature, Aggressive behav... |
OMIM:300354 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Short stature, Dorsocervical fat pad, Osteoporosis, Primary amen... |
OMIM:616033 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the... |
ORPHA:3455 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
| Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Short stature, Proximal placement of thumb, Micrognathia, Postnatal growth retard... |
OMIM:300882 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary ... |
OMIM:610628 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Joubert Syndrome 26 |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism |
OMIM:616784 |
| Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Repeated implantation failure, Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Zygotic cleavage failure |
OMIM:619009 |
| Luscan-Lumish Syndrome |
|
Short stature, Aggressive behavior, Irregular menstruation, Advanced ossification of carpal bones... |
OMIM:616831 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Decreased liver function |
ORPHA:67048 |
| Pediatric-Onset Graves Disease |
|
Anti-thyroid peroxidase antibody positivity, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, I... |
ORPHA:525731 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Abnormal preimplantation embryonic development, Female infertility |
OMIM:619697 |
| Ovarian Dysgenesis 4 |
|
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... |
OMIM:616185 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Fever, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Recurrent fever |
OMIM:201910 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Short stature, Small for gestational age, Oral-pharyngeal dysphagia, Micrognathia,... |
OMIM:610883 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... |
ORPHA:99429 |
| Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Hypoalbuminem... |
OMIM:618347 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Polyhydramnios, Large for gestational age, Congenital diaphragmatic hernia,... |
ORPHA:116 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... |
ORPHA:3044 |
| Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive impairment, Attention de... |
ORPHA:369873 |
| Androgen Insensitivity Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina... |
OMIM:300068 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... |
ORPHA:330015 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia, Premature ... |
OMIM:608320 |
| Huntington Disease |
|
Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating c... |
ORPHA:399 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Hypothermia, Pituitary hypothyroidism, Decreased cir... |
ORPHA:90674 |
| Mosaic Trisomy 16 |
|
Syndactyly, Hypospadias, Premature birth, Maternal diabetes, Small for gestational age, Ventricul... |
ORPHA:1708 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, External genital hy... |
ORPHA:3041 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Precocious puberty, Postnatal growth retardation, Acromicria, Small hand, Obesity, ... |
ORPHA:254525 |
| Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc... |
ORPHA:180229 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Pes cav... |
ORPHA:478 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, D... |
ORPHA:79239 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ... |
ORPHA:2234 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... |
OMIM:612447 |
| Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Obesity, Hypogon... |
ORPHA:141333 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Nephrocalcinosis, Fasting hypoglycemia, Atrial septal defect, Hypothyro... |
ORPHA:769 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Short stature, Hypoglycemia, Adrenal hypoplasia, ... |
ORPHA:95496 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:264580 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bulging epiphyses, Recurrent fractures, Decreased circulating parathyroi... |
OMIM:241530 |
| MĆ¼llerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... |
ORPHA:247768 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Inguinal hernia, Short stature, Portal hypertension, Flexion contracture, He... |
ORPHA:440713 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Hypothermia, Hyperhidrosis |
OMIM:245400 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Hyperammonemia, Hyperalaninemia, Failure to thrive, Intr... |
OMIM:614702 |
| Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
| 2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Sandal gap, Short stature, Cryptorchidism, Polyphagia, Growth... |
ORPHA:228402 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia, Hyperhidrosis |
ORPHA:29822 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... |
OMIM:618187 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Hypogonadism, Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:3363 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, ... |
ORPHA:79083 |
| Hydatidiform Mole, Recurrent, 3 |
|
Hydatidiform mole, Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Hydatidiform mole, Female infertility |
OMIM:618432 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Abnormality of thyroid physiology |
OMIM:615542 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:90695 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Hypoalb... |
OMIM:608104 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Bilateral coxa valga, Intrauterine growth retardatio... |
OMIM:620270 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Polyhydramnios, Micrognathia, Hydrocele testis, Hypertrophic cardiomyopathy, Hypoch... |
OMIM:618810 |
| Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchi... |
ORPHA:171839 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, External genital hypoplasia, Decreased response to growth hormone ... |
ORPHA:177907 |
| Laron Syndrome |
|
Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed... |
ORPHA:633 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Ventricular septal defect, Unilateral renal agenesis, Aggressive behavior, Precoci... |
ORPHA:3306 |
| Hawkinsinuria |
|
Hypothyroidism |
ORPHA:2118 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia |
ORPHA:230 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Smith-Magenis Syndrome |
|
Pes planus, Decreased fetal movement, Toe syndactyly, Short stature, Hypertriglyceridemia, Failur... |
ORPHA:819 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:264700 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612964 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Renal salt wasting, Hypogly... |
ORPHA:361 |
| Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, ... |
OMIM:108720 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:248370 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Postnatal growth retardation, Small for gestational age, Short stature, Hypoglycemia |
ORPHA:231137 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Hyperhidrosis, Patent foramen ovale, Hepatic steatosis, Hepatomegaly, Hyposp... |
ORPHA:17 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Short femur, Inguinal hernia, Metaphyseal spurs, Polyhydramnios,... |
OMIM:618188 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:277440 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:95494 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... |
OMIM:614732 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Polydipsia, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, I... |
OMIM:615986 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
| Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Abn... |
ORPHA:65759 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism |
OMIM:614450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Micrognathia, Flexion contracture, Small hand, Obesity, Wrist flexion contracture, ... |
OMIM:300055 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, External genital hypoplasia, Micrognathia, Generalized joint laxity, Tibial bowing, C... |
ORPHA:251028 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Complete duplication of the distal phalanges of the hand, Hypertension, Multiple... |
ORPHA:1879 |
| Frasier Syndrome |
|
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Male pseudohermap... |
ORPHA:347 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Encephalocele, Omphalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism,... |
OMIM:616300 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hypothyroidism, Hepatosplenom... |
OMIM:619013 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism |
OMIM:618625 |
| Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... |
OMIM:612885 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Micrognathia, Cryptorchidism,... |
ORPHA:2849 |
| Athyreosis |
|
Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
| Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Hypogonadotropic hypogonadism, Hypoglycemia, Intrauterine... |
ORPHA:48431 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Decreased fetal movement, Atrial septal defect, Short stature, Wid... |
OMIM:614886 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Obesity, Cholestasis, Stage 5 chronic kidney disease,... |
OMIM:616629 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Autoimmunity, Precocious pub... |
ORPHA:91354 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Failure to thrive, Neon... |
OMIM:619046 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... |
OMIM:615710 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... |
ORPHA:672 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Micrognathia, Insulin resistance, Growth delay, Tru... |
ORPHA:140941 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Tapered finger, Cryptorchidism, Short toe, Tru... |
ORPHA:127 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short st... |
OMIM:613457 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... |
ORPHA:3157 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t... |
OMIM:251000 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Genu ... |
OMIM:264090 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Primary hypercortisolism, Paradoxical ... |
OMIM:610475 |
| Allan-Herndon-Dudley Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Abnormal circulating calcium concen... |
OMIM:619795 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Micrognathia, Abnormal digit morphology, Abnormal cortical bo... |
OMIM:300831 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperch... |
ORPHA:77296 |
| Alstrƶm Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
| Propionic Acidemia |
|
Hepatomegaly, Short stature, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive, Pa... |
OMIM:606054 |
| Mirage Syndrome |
|
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Hyponatremia, Hypospadias,... |
OMIM:617053 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
| Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... |
ORPHA:397685 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Polydipsia, Mesoaxial hand polydactyly, Dextrocar... |
OMIM:615994 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Proportionate short stature, Aggressive behavior, Supraventricular tachy... |
ORPHA:404443 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contra... |
OMIM:175700 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... |
OMIM:240950 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly, Situs inversus totalis, Obesity, Hypogonadism |
OMIM:615985 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... |
ORPHA:314478 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... |
ORPHA:90790 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
| Maple Syrup Urine Disease |
|
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevate... |
OMIM:248600 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Autoimmunity... |
ORPHA:275555 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Elevated circ... |
OMIM:101800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Growth delay,... |
OMIM:615453 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Insulin resistance, Obe... |
OMIM:209900 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Pes planus, Toe syndactyly, Precocious puberty, Obesity, Pes cavus |
ORPHA:217377 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Primary amenorrhea, Absence of pubertal deve... |
OMIM:212840 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ectopic kidney, Micropenis, Hypothyroidism, Short stature, Cryptorchidism, Insulin resistance, Di... |
OMIM:616541 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Hyperhidrosis, Short tibia... |
OMIM:601559 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration |
OMIM:223360 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Abnormal finger morphology, Abnormality of the uterus, Short stature, Abnorm... |
ORPHA:3138 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Micrognathia, Knee flexio... |
OMIM:151050 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... |
OMIM:609015 |
| Pituitary Gigantism |
|
Premature pubarche, Tall stature, Elevated circulating growth hormone concentration, Hyperhidrosi... |
ORPHA:99725 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidi... |
ORPHA:110 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Tibial bowing, Femoral bowi... |
ORPHA:289157 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Short sta... |
OMIM:601678 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Short stature, Polyhydramnios, Splenomegaly, Abnorm... |
ORPHA:2204 |
| Trisomy 18P |
|
Short stature, Micrognathia, Bilateral cryptorchidism, Abnormal foot morphology, Abnormal finger ... |
ORPHA:1715 |
| Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes melli... |
OMIM:269880 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Structural foot deformity, Renal cyst... |
ORPHA:464306 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:615926 |
| Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
| Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
| 8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Atrioventricular cana... |
ORPHA:251071 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ... |
OMIM:614921 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency, Decreased serum testosterone concentration, Pes cavus |
OMIM:609195 |
| Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Miscarriage, Thrombocytopenia, Hydrocele testis, Slender long bone, Increased se... |
ORPHA:96181 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
| Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... |
OMIM:618723 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Nephrogenic d... |
ORPHA:3130 |
| Werner Syndrome |
|
Myocardial infarction, Thyroid carcinoma, Increased bone mineral density, Short stature, Insulin ... |
ORPHA:902 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
| Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadis... |
ORPHA:353298 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
| Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Growth delay, Hypoalbuminemia, Hypoch... |
OMIM:246700 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... |
ORPHA:91351 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Bile duct proliferation, Macrovesic... |
OMIM:618329 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Hypog... |
OMIM:617575 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Tapered finger, Small hand, 2-3 toe syndactyly, P... |
ORPHA:284180 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyro... |
ORPHA:464288 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia, Micropenis... |
OMIM:620076 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:2348 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hyperlipidemia, Delayed... |
OMIM:232200 |
| Autoinflammation With Infantile Enterocolitis |
|
Short stature, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased cir... |
OMIM:616050 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Overgrowth, Attentio... |
ORPHA:649929 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Cryptorchidism, Genu valgum, Growth delay, Overgrowth, Mi... |
OMIM:617798 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... |
ORPHA:2658 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Abnormality of the ankle, Finger joint hypermobility, Genu valgum |
ORPHA:436141 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:613090 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Hip dyspl... |
ORPHA:412035 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia, Small for gestational age, Proportionate short stature, Dorsocer... |
ORPHA:391408 |
| Dubowitz Syndrome |
|
Syndactyly, Pes planus, Short attention span, Hypospadias, Short stature, Hyperactivity, Microgna... |
OMIM:223370 |
| Gracile Bone Dysplasia |
|
Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Slender long bone, Micropenis, De... |
OMIM:602361 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism |
ORPHA:2349 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
| Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
| H Syndrome |
|
Microcytic anemia, Hernia, Micropenis, Short stature, Hepatosplenomegaly, Lymphadenopathy, Azoosp... |
ORPHA:168569 |
| Diastrophic Dysplasia |
|
Hip contracture, Small for gestational age, Flattened epiphysis, Genu valgum, Ulnar deviation of ... |
OMIM:222600 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Premature ... |
OMIM:615873 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Short stature, Bowing of the legs, Secondary amenorrhea, Lower limb undergrow... |
OMIM:612847 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchid... |
ORPHA:1827 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Hypo... |
OMIM:619055 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Ob... |
OMIM:219090 |
| Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... |
ORPHA:33543 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... |
ORPHA:1078 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Hypertriglyceridemia, Autoimmuni... |
ORPHA:79086 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly |
OMIM:300577 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Tubulonodular pericallosal lipoma, Cryptorchidism, Preaxial polydactyl... |
OMIM:603671 |
| Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Ectop... |
ORPHA:79445 |
| Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... |
ORPHA:96253 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Short stature, Split hand, Obesity, Areflexia of lower limbs, Pe... |
OMIM:618124 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Multiple lipomas, Hypertrophy of skin of soles, Lipoma, Calvar... |
OMIM:176920 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Narcolepsy Type 1 |
|
Transient global amnesia, Obesity, Syncope |
ORPHA:2073 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Postaxial polydactyly, Cryptorchidism, Obesity, Nephrocalcinosis, Short long bone... |
OMIM:615633 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyc... |
OMIM:612526 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Bilateral re... |
ORPHA:508488 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Abnormal repetitive manneris... |
ORPHA:96121 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:201475 |
| Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Obesity, Genu valgum, Short palm, Macroorchidism, ... |
OMIM:300602 |
| Wagr Syndrome |
|
Short stature, Micrognathia, Cryptorchidism, Obesity, Ambiguous genitalia, Displacement of the ur... |
ORPHA:893 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Micrognathia, Polyphagia, Obesity, Attention deficit hyperactivity disorder,... |
ORPHA:261229 |
| Seckel Syndrome 7 |
|
Severe short stature, Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hyp... |
OMIM:614851 |
| Laron Syndrome |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Short long bone, Limb undergr... |
OMIM:262500 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Enuresis, Co... |
OMIM:613670 |
| African Trypanosomiasis |
|
Urinary incontinence, Delirium, Hepatomegaly, Abnormal EKG, Premature birth, Abnormality of the e... |
ORPHA:3385 |
| Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Ureteral duplication, Adrenal hypoplasia, Micrognathia, Po... |
OMIM:275210 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Postaxial polydactyly, Cryptorchidism, Obesity, Hydronephrosis, Micr... |
OMIM:619185 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Micrognathia, Small hand, Obesity, Short foot, Attention deficit hyperactiv... |
ORPHA:444002 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism |
ORPHA:96183 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b... |
OMIM:201750 |
| 19P13.3 Microduplication Syndrome |
|
Hyperactivity, Unilateral cryptorchidism, Ventricular septal defect, Micrognathia, Precocious pub... |
ORPHA:447980 |
| Trisomy 5P |
|
Hypoplasia of penis, Short stature, Obesity, Abnormal metacarpal morphology |
ORPHA:1742 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Cong... |
ORPHA:3077 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Micrognathia, Aggressive behavior, Cryptorchidism, Hypoplastic labia minora, Absence... |
ORPHA:495875 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Ulnar deviat... |
ORPHA:2928 |
| Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Growth delay, Hepatic steatos... |
OMIM:231530 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... |
ORPHA:1606 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Elevated circulating alpha... |
ORPHA:457083 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... |
ORPHA:84 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Miscarriage, Insulin resistance, Insulin-resist... |
OMIM:613877 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
| Omodysplasia 2 |
|
Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ... |
OMIM:164745 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Intrauterine growth retardation, Hypoglycemia, Hyperammonemia |
OMIM:618253 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Short stature, Premature birth, Small for gestational ag... |
OMIM:300957 |
| Silver-Russell Syndrome 1 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... |
OMIM:180860 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... |
ORPHA:348 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Malignant hyperthermia, Congenital hypothyroidism |
ORPHA:352530 |
| Catel-Manzke Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Joint laxity, Short metacarpal, Overriding aorta, C... |
OMIM:616145 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h... |
ORPHA:740 |
| Seckel Syndrome 10 |
|
Metaphyseal widening, Glucose intolerance, Hepatic steatosis, Abdominal aortic aneurysm, Microret... |
OMIM:617253 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Pes planus, Hip contracture, Inguinal hernia, Short stature, Micrognathia, Cox... |
OMIM:618363 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
| Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Premature delivery because of cerv... |
ORPHA:1662 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Anterior pituitary hypoplasia, Polyhydramnios, Micrognathia, Fetal pyele... |
OMIM:619841 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Abnormal repetitive manneri... |
OMIM:620073 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... |
OMIM:251450 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short stature, Short metatarsal, Pseudohypoparathyroidism, Obesity, Osteoporosi... |
OMIM:612463 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Microtriplication 11Q24.1 |
|
Short stature, Metatarsus adductus, Hyperlipidemia, Limitation of joint mobility, Small hand, Obe... |
ORPHA:289522 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Hypoglycemia, Sp... |
OMIM:232220 |
| Distal Deletion 12Q |
|
Micrognathia, Ectopic kidney, Biliary atresia, Proportionate tall stature, Aplasia/Hypoplasia of ... |
ORPHA:96149 |
| Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... |
OMIM:618014 |
| Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism, Hyperlipidemia, Growth delay, Hypoalbuminemia, Hypopro... |
OMIM:256300 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:620300 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Hypopla... |
OMIM:615524 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Small hand, Abnormal heart morphology, Azoos... |
ORPHA:1445 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Oligozoospermia, Right bundle br... |
OMIM:602668 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
| Metatropic Dysplasia |
|
Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Join... |
ORPHA:2635 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Ventricular septal defect, Polyhydramnios, Large for gest... |
ORPHA:254534 |
| Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Atrial septal defect, Decreased body weight, Patent foramen ovale, Short stature, S... |
OMIM:270450 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced ... |
ORPHA:970 |
| Glutaric Acidemia I |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration |
OMIM:231670 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Postaxial hand polydactyly, Obesity, Short finger, Broad thumb |
OMIM:300209 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Hepatosple... |
ORPHA:367 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism |
OMIM:619851 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Inguinal hernia, Omphalocele, Overlapping toe, Polyhydramnios, Postnatal ... |
ORPHA:254528 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
| 22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormal... |
ORPHA:567 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly, Obesity |
OMIM:615991 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Arachnodactyly, Dysphagia, Ankle clonus, Hypogonadism, Infertility, Oligomenorrhea, Cognitive imp... |
ORPHA:412057 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulati... |
ORPHA:99901 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity, Brachydactyly |
OMIM:615995 |
| Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Hyperactivity, Aggressive behavior, Hyp... |
OMIM:600430 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Premature birth, Polyhydramnios, Coxa valga, Postnatal growth retar... |
ORPHA:254519 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubuloint... |
ORPHA:79259 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Omphalocele, Short stature, Small for gestational age, Elevated circulating lut... |
OMIM:618419 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Hypogonadotropic hypogonadism |
ORPHA:752 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid... |
OMIM:619598 |
| Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Brachydactyly, Short stature, Short metatarsal, Osteolytic defects ... |
OMIM:600705 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Tapered finger, Cryptorchidism, Generalized joint laxity, 2-3 toe syndactyly, Increa... |
ORPHA:589905 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism |
ORPHA:589618 |
| LĆ©ri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Short stature |
OMIM:300484 |
| Premature Ovarian Failure 2A |
|
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... |
OMIM:300511 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Hypothermia, Hypoketotic hypoglycemia |
ORPHA:159 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Autoimmune antibody positivity, Pituitar... |
ORPHA:99832 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... |
OMIM:271530 |
| Cystinosis |
|
Fever, Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Hypothyroidism |
ORPHA:213 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism |
OMIM:613970 |
| Radio-Tartaglia Syndrome |
|
Pes planus, Ventricular septal defect, Impulsivity, Tapered finger, Precocious puberty, Micrognat... |
OMIM:619312 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... |
OMIM:618985 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Micrognathia, Postaxial polydactyly, Wide anterior fontanel, ... |
OMIM:617925 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Megalencephaly |
|
Atrial septal defect, Long penis, Genu valgum, Truncal obesity, Macroorchidism |
ORPHA:2477 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin... |
OMIM:260370 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... |
OMIM:619217 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:608836 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Short stature, Isosexual precocious puberty, Metap... |
ORPHA:2788 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Cryptorchidism, Growth delay, Recurrent hypoglycemia, D... |
OMIM:616817 |
| Cog2-Cdg |
|
Psychomotor deterioration, Decreased circulating ceruloplasmin concentration, Decreased circulati... |
ORPHA:435934 |
| Adenocarcinoma Of The Esophagus |
|
Obesity, Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99976 |
| Cohen Syndrome |
|
Finger syndactyly, Decreased fetal movement, Arachnodactyly, Sandal gap, Short stature, Micrognat... |
ORPHA:193 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Micrognathia, Biliary tract abnormality, Obesity, Membranous subv... |
ORPHA:3191 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Micromelia, Precocious puberty, Disproportionate short stature, Arterial st... |
ORPHA:2637 |
| Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Posta... |
OMIM:615849 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... |
OMIM:615980 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
| Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... |
OMIM:240300 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia |
ORPHA:507 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Preaxial polydactyly, Obesi... |
ORPHA:163681 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Short stature, Hypercalcemia, Recurrent fra... |
ORPHA:251004 |
| Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
| Grant Syndrome |
|
Bowing of the long bones, Short stature, Micrognathia, Decreased skull ossification, Joint hyperf... |
ORPHA:2097 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Short stature, Ventricular septal defect, Micro... |
OMIM:244450 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Hernia, Vesicoureteral reflux, Micropenis... |
ORPHA:261494 |
| Adnp Syndrome |
|
Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger morphology, Compulsive behaviors... |
ORPHA:404448 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Fever, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
| Immunodeficiency 27A |
|
Splenomegaly, Weight loss, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:209950 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila... |
ORPHA:2229 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hyperhidrosis, Fasting hypog... |
ORPHA:96182 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
| Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, Increased fib... |
OMIM:258315 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, El... |
OMIM:608779 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Postnatal growth retardation, Micrognathia, Prominent protruding coccy... |
ORPHA:480907 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... |
ORPHA:950 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Short stature, Hypoglycemia, Hyperglycerolemia, ... |
OMIM:307030 |
| Rudiger Syndrome |
|
Death in infancy, Inguinal hernia, Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bi... |
OMIM:268650 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Polyhydramnios, Hypoplastic ilia, Abnormal sac... |
ORPHA:1860 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Decreased body weight, Postn... |
ORPHA:508 |
| Dent Disease |
|
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... |
ORPHA:1652 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... |
ORPHA:95409 |
| Wagro Syndrome |
|
Proteinuria, Micrognathia, Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive beha... |
OMIM:612469 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Neurogenic bladder, Short stature, Elevated circulating creatine k... |
ORPHA:96180 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Omphalocele, Ulnar deviation of the hand, Polyhydramnios, Micrognathi... |
OMIM:263210 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Short long bone, ... |
OMIM:619479 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Small for gestational age, Hyp... |
OMIM:241200 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensi... |
ORPHA:89938 |
| Morm Syndrome |
|
Hyperactivity, Truncal obesity, Micropenis, Aggressive behavior |
ORPHA:75858 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... |
ORPHA:26791 |
| Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... |
OMIM:609981 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Pes planus, Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response... |
ORPHA:96179 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Genu valgum, Reduced bo... |
OMIM:265900 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Short stature, Obesity, Cognitive impairment |
OMIM:619058 |
| Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Decreased fetal movement, Small scrotum, Toe syndactyly, Anterior pituitary hy... |
ORPHA:264200 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:2994 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Hypoglycemia |
OMIM:248360 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... |
OMIM:616834 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth reta... |
ORPHA:2609 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Hypothyroidism |
ORPHA:391372 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Hip dislocation, Talipes equinovarus, Short stature, Obesity |
OMIM:616756 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Abd... |
OMIM:301039 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone con... |
ORPHA:2796 |
| Li-Campeau Syndrome |
|
Hypothyroidism |
OMIM:619189 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short attention span, Sandal gap, Short stature, Micrognathia, Postnatal growth retardation, Aggr... |
OMIM:156200 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Abnormal ossification involving the femora... |
ORPHA:1190 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Polyhydramnios, Conjugated hyperbilirubinemia, Secundu... |
OMIM:619534 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Hepatomegaly, Short attention span, Hypoglycemia, Tapered finger, Precocious puberty,... |
OMIM:301066 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Decreased fetal movement, Failure to thrive, Short stature, Impulsivity, Aggressive behavior, Ove... |
ORPHA:500055 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Hypothyroidism, Short phalanx of f... |
ORPHA:221008 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Decreased fertility, Calf muscle hypertrophy,... |
OMIM:313200 |
| Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
| Bachmann-Bupp Syndrome |
|
Cryptorchidism, Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbumine... |
ORPHA:14 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
| Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Delayed epiphyseal ossifi... |
OMIM:156550 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Polyhydramnios, Tracheobronchomalacia, Short phalanx of finger, Hypopla... |
ORPHA:56304 |
| MĆ¼llerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism |
ORPHA:2491 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failur... |
OMIM:266510 |
| Alexander Disease |
|
Diabetes mellitus, Hypothermia, Precocious puberty, Hyperhidrosis, Hypothyroidism |
ORPHA:58 |
| Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
| Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism |
ORPHA:48377 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulatin... |
ORPHA:370348 |
| Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Premature thelarche, Micrognathia, Bilateral crypto... |
OMIM:180849 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Immunodeficiency 32B |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypoalbuminemia |
OMIM:226990 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short attention span, Decreased serum insulin-like growth factor 1, Hyperactivity, Sh... |
OMIM:608747 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyl... |
ORPHA:1596 |
| Down Syndrome |
|
Thickened nuchal skin fold, Joint laxity, Sandal gap, Abnormality of the lymphatic system, Decrea... |
ORPHA:870 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognath... |
ORPHA:369837 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Primary hypercortisolism, Decreased circulating ACTH concentrati... |
OMIM:219080 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Short femur, Tricuspid regurgitation, Cardiomegaly, Glandular hypospa... |
OMIM:620306 |
| Septopreoptic Holoprosencephaly |
|
Short attention span, Impulsivity, Precocious puberty, Coarctation of aorta, Dysphagia, Anterior ... |
ORPHA:280195 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Tall stature, Elevated circulating growth hormone concentration, Pituita... |
OMIM:300942 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Premature birth, Ventricular sept... |
ORPHA:2256 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia, Hyperprolinemia... |
OMIM:615751 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Short stature, Obesity |
ORPHA:1193 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ... |
OMIM:269200 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro... |
OMIM:613848 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Micrognathia, Rhizomelia, Hypospadias, Short stature, Hemolytic-uremic syndrome, Cryp... |
OMIM:611209 |
| Cog8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal defect, Renal insuff... |
ORPHA:2970 |
| Monosomy 13Q34 |
|
Pes planus, Metrorrhagia, Hypercalcemia, Epistaxis, Micrognathia, Postaxial hand polydactyly, Fet... |
ORPHA:96168 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, Hepatomega... |
ORPHA:171 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia |
OMIM:616638 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty |
OMIM:615952 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Failure to thrive, Femoral hernia, Inguinal hernia, Re... |
ORPHA:96147 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Bilateral cryptorchidism, Atrial septal defect, Clinodactyly of th... |
ORPHA:466791 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... |
OMIM:619487 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Decreased fetal movement, Premature ovarian insufficiency, Short stature, Elevated circulating cr... |
OMIM:619518 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Short stature, Hypoglycemia, Portal hypertension,... |
OMIM:613658 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Nonketotic hypoglycemia, Acute pancreatitis, Hypothermia, Recurrent hypoglycemia |
ORPHA:20 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Hypothe... |
ORPHA:293987 |
| HernƔndez-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Proteinuria, Postaxial polydactyly, Bilatera... |
OMIM:619471 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... |
OMIM:222300 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypoph... |
ORPHA:398063 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... |
ORPHA:666 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Short attention span, Penile freckling, Large for gestational age, Sp... |
OMIM:605309 |
| Myotonic Dystrophy 1 |
|
Decreased fetal movement, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atrio... |
OMIM:160900 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro... |
ORPHA:93324 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Inguinal hernia, Supernumerary nipple, Micrognathia, Precocious puberty, Cryptorchidism, Attentio... |
OMIM:619243 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| D-Glyceric Aciduria |
|
Growth delay, Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia |
OMIM:220120 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Short stature, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia, S... |
OMIM:145420 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Large hands, Short stature, Obesity, Tapered finger |
ORPHA:276630 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Failur... |
ORPHA:3008 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly,... |
OMIM:615630 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Pulmonary artery atresia, Ne... |
OMIM:601186 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Atherosclerosis, Micro... |
OMIM:614008 |
| Meningococcal Meningitis |
|
Fever, Hypothermia |
ORPHA:33475 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Micrognathia, Co... |
ORPHA:2484 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Central adre... |
ORPHA:488632 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragma... |
ORPHA:199 |
| Alg9-Cdg |
|
Micrognathia, Hydrops fetalis, Right ventricular dilatation, Narrow greater sciatic notch, Abnorm... |
ORPHA:79328 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Lower-limb jo... |
ORPHA:99885 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocytop... |
ORPHA:391673 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Short stature, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the ut... |
OMIM:619151 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... |
OMIM:173100 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Splenomegaly, Ja... |
OMIM:603553 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Short stature, Congenital diaphrag... |
ORPHA:2322 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, O... |
OMIM:605231 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Multicystic kidney dysplasia,... |
ORPHA:1001 |
| 6Q16 Microdeletion Syndrome |
|
Tapered finger, Micrognathia, Obesity, Abnormal temper tantrums, Long foot, Polyphagia |
ORPHA:171829 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea... |
ORPHA:746 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Charge Syndrome |
|
External genital hypoplasia, Decreased response to growth hormone stimulation test, Micrognathia,... |
OMIM:214800 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Cognitive impairment |
OMIM:613909 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... |
OMIM:206900 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis invo... |
ORPHA:371428 |
| Achondroplasia |
|
Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Polyhydramnios, Bowing o... |
OMIM:100800 |
| 11P15.4 Microduplication Syndrome |
|
Large hands, Obesity, Aggressive behavior |
ORPHA:300305 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:602522 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... |
ORPHA:563 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5th finger, Dislocated radial h... |
OMIM:210600 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Short stature, Micrognathia, Wide anterior fontanel, Fibular h... |
OMIM:201170 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Decreased skull ossific... |
OMIM:601163 |
| Lig4 Syndrome |
|
Pancytopenia, Plantar warts, Small for gestational age, Cryptorchidism, Telangiectasia, Acute lym... |
OMIM:606593 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia, H... |
ORPHA:412 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Tracheobronchomalacia, Obesity, Conotruncal def... |
OMIM:610253 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... |
OMIM:608728 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypothyroidism, Growth delay, Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Moderate albuminuria, Short toe, Obe... |
OMIM:619269 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra... |
OMIM:251230 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... |
ORPHA:3282 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
| Atelis Syndrome 1 |
|
Hypothyroidism |
OMIM:620184 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Gro... |
ORPHA:95427 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism |
OMIM:619908 |
| Myhre Syndrome |
|
External genital hypoplasia, Epispadias, Short palm, Large iliac wing, Abnormal penis morphology,... |
ORPHA:2588 |
| Gapo Syndrome |
|
Short stature, Dysmenorrhea, Micrognathia, Nephrolithiasis, Oligozoospermia, Growth delay, Joint ... |
ORPHA:2067 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Short stature, Central Y-shaped metacarpal, Hypothalamic hamartoma, ... |
OMIM:277170 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C... |
ORPHA:3210 |
| Rafiq Syndrome |
|
Joint laxity, Short stature, Aggressive behavior, Flexion contracture, Obesity, Truncal obesity, ... |
OMIM:614202 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Clinodactyly of the 5th finger, Atrial septal defect, Hypo... |
OMIM:607872 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormali... |
ORPHA:37042 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Hypothyroidism |
ORPHA:1923 |
| Vipoma |
|
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neopla... |
ORPHA:97282 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Growth delay, Hyperuricemia, Hypo... |
ORPHA:469 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia |
OMIM:618493 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Growth delay, Hypoalbuminemia, Hypernatremia, Failure to thrive, Reduced circulating growth hormo... |
OMIM:615508 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth retardation |
OMIM:620275 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive |
OMIM:210210 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment |
ORPHA:276183 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... |
ORPHA:93333 |
| Congenital Myopathy 9A |
|
Death in infancy, Short stature, Cryptorchidism, Obesity, Oligohydramnios |
OMIM:618822 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Bilateral crypto... |
ORPHA:66634 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, H... |
ORPHA:186 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
| Digeorge Syndrome |
|
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypoc... |
OMIM:188400 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Hypospadias, Ventricular septal defect, Polyhydramnios, Micrognath... |
OMIM:236680 |
| Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual m... |
OMIM:194050 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Pes planus, Short attention span, Hyperactivity, Sandal gap, Short stature, Tapered finger, Small... |
OMIM:618089 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Polyhydramnios, Micrognathia, Limitation of joint mobility, A... |
ORPHA:1486 |
| Omenn Syndrome |
|
Fever, Hypothyroidism, Thyroiditis |
ORPHA:39041 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... |
OMIM:229600 |
| Summitt Syndrome |
|
Syndactyly, Obesity, Craniosynostosis |
OMIM:272350 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Short stature, Arachnodactyly, Micromelia, Abnormality of the ureter, Obesity, Genu v... |
ORPHA:1035 |
| Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease... |
OMIM:615577 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Pr... |
OMIM:263520 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... |
OMIM:249700 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased fetal movement, Nephrolithiasis, Cystinuria, Growth delay, Failure to thrive, Polyphagia |
ORPHA:163690 |
| Bainbridge-Ropers Syndrome |
|
Pes planus, Failure to thrive, Ulnar deviation of the hand, Arachnodactyly, Death in infancy, Sup... |
OMIM:615485 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Posta... |
OMIM:615989 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Osteopenia, Small scrotum, Diabetes mellitus, External genital hyp... |
OMIM:614231 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Gastrointestinal hemorrhage, Anorexia, Cachexia, Myocar... |
ORPHA:3452 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Diabetes mellitus, Hypothyroidism |
ORPHA:98673 |
| Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:616355 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, U... |
ORPHA:464282 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Smith-Magenis Syndrome |
|
Pes planus, Hyperactivity, Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland,... |
OMIM:182290 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Vesicouretera... |
ORPHA:2745 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
| Autosomal Recessive Primary Microcephaly |
|
Short stature, Unilateral renal agenesis, Growth delay, Vesicoureteral reflux, Abnormal cortical ... |
ORPHA:2512 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen, Rocker bottom foot, Adducted thumb |
ORPHA:89844 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu... |
ORPHA:221016 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:480864 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Premature birth, Decreased fertil... |
ORPHA:1916 |
| Alg1-Cdg |
|
Hypoalbuminemia, Decreased liver function |
ORPHA:79327 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
| Oculodentodigital Dysplasia |
|
Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morpholog... |
ORPHA:2710 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture, Failure to thriv... |
OMIM:618005 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Mayer-Rokitansky-KĆ¼ster-Hauser Syndrome Type 2 |
|
Short stature, Ectopic kidney, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Man1B1-Cdg |
|
2-3 toe syndactyly, Truncal obesity, Clinodactyly of the 5th finger, Polyphagia, Joint hypermobility |
ORPHA:397941 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, A... |
OMIM:601357 |
| Cln3 Disease |
|
Aggressive behavior, Vacuolated lymphocytes, Increased circulating androgen concentration, Dement... |
ORPHA:228346 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal ... |
ORPHA:567548 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... |
ORPHA:3411 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Somatostatinoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97283 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl... |
OMIM:609616 |
| Septooptic Dysplasia |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:182230 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Impulsivity, Micrognathia, Precocious puberty, Cryptorchidism, Long fingers, Positi... |
ORPHA:96092 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
OMIM:616878 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hy... |
ORPHA:90362 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Abnormal carpal morphology, Obesity, Primary amenorrhea, Bilateral breast hypoplas... |
ORPHA:319675 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Obesity, Bilateral talipes equinovarus, Polyphagia, Self-mutilation |
OMIM:616521 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive, Aortopulmonary collateral arteries, Cognitive impairment |
ORPHA:293181 |
| Sotos Syndrome |
|
Joint laxity, Pes planus, Decreased fetal movement, Tall stature, Ventricular septal defect, Aggr... |
OMIM:117550 |
| Pseudoachondroplasia |
|
Short metacarpal, Brachydactyly, Ulnar metaphyseal irregularity, Irregular carpal bones, Delayed ... |
OMIM:177170 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, External genital hypoplasia, Postaxial polydactyly, Obesity, Renal hypop... |
OMIM:600151 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypohidrosis |
ORPHA:1563 |
| StĆ¼ve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hype... |
ORPHA:3206 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Abnorma... |
ORPHA:353281 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Bicuspid aortic valve, Tics, Compulsive behaviors, Intrauterine growth retardation... |
OMIM:619475 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Intrauterine growth retardation, Hypoalbuminemia, Decreased liver func... |
OMIM:617021 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ventouse delivery, Abnormal repetitive mannerisms, Caesarian section, Amelogenesis imperfecta, Pr... |
OMIM:619229 |
| Cockayne Syndrome A |
|
Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Micrope... |
OMIM:216400 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Micrognathia, Compulsive behaviors, Atrial septal defect, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Micrognathia, Compulsive behaviors, Atrial septal defect, ... |
ORPHA:353277 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
| 46,Xx Sex Reversal 1 |
|
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:400045 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Tall stature, Short stature, Recurrent fractures, Long f... |
OMIM:309583 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Flexion contracture, Growth delay, Atypical scarring of ... |
ORPHA:89842 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin... |
ORPHA:97287 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Female infertility, Asplen... |
ORPHA:244 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short stature, Aplastic ... |
ORPHA:2909 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Polyhydramnio... |
OMIM:613406 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone lev... |
OMIM:603233 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Obesity, Limited ... |
OMIM:618821 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Polyhydramnios, Micrognathia, Fetal akinesia sequence, Congenital contracture,... |
OMIM:208150 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Laurence-Moon Syndrome |
|
Small scrotum, Short stature, Obesity, Polydactyly, Micropenis |
OMIM:245800 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98855 |
| Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Short stature, Pericardial effusi... |
OMIM:139210 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
| Spondyloocular Syndrome |
|
Long toe, Pes planus, Osteopenia, Arachnodactyly, Unilateral cryptorchidism, Femur fracture, Over... |
OMIM:605822 |
| Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Metaphyseal widening, Flat acetabular roof, Cone-shaped epiphyse... |
OMIM:184260 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den... |
OMIM:259050 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatocellular c... |
OMIM:232240 |
| Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Antiphospholipid antibody positivity, Small for ... |
ORPHA:439167 |
| Grfoma |
|
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... |
ORPHA:97261 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617710 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Patent fo... |
OMIM:618653 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... |
OMIM:602080 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Severe short stature, Cachexia, Absence of subcutaneous fat, Corne... |
OMIM:610965 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Intrauterine growth retardatio... |
ORPHA:86822 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:615108 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... |
ORPHA:540 |
| Basilicata-Akhtar Syndrome |
|
Short palm, Precocious puberty, Short foot, Broad foot, Camptodactyly, Neonatal hypoglycemia, Add... |
OMIM:301032 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Short stature, Tapered finger, Precocious puberty, Large for gestational age, Ve... |
ORPHA:261652 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia |
OMIM:258865 |
| 46,Xy Sex Reversal 4 |
|
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatini... |
OMIM:154230 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, Increase... |
OMIM:615830 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalan... |
ORPHA:73230 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Short stature, Abnormal dental enamel morphology, Patchy... |
ORPHA:2323 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98853 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Frontotemporal Dementia |
|
Frontotemporal dementia, Frontal lobe dementia, Dementia, Disinhibition, Inappropriate laughter, ... |
OMIM:600274 |
| Cohen Syndrome |
|
Pes planus, Short metacarpal, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:216550 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Sandal gap, Aggressive behavior, Obesity, Clinodactyly |
OMIM:617752 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Somatomammotropinoma |
|
Dysmenorrhea, Osteoarthritis, Hyperhidrosis, Pituitary prolactin cell adenoma, Hypogonadotropic h... |
ORPHA:314769 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Hydrops fetalis, Encephalocele... |
ORPHA:1865 |
| Ppoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97278 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Tapered finger, Obesity, Attention deficit hyperactivity disorder, Clinodactyly of th... |
OMIM:618725 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Adrenal hy... |
OMIM:264480 |
| Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m... |
OMIM:172700 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism |
OMIM:607906 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism |
ORPHA:449291 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Obesity, Ankle clonus, Urinary urgency, Dysphagia, Mental deterioration, Ur... |
OMIM:604360 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Precocious puberty, Head-banging, Short distal phalanx of toe, Atrial septal defect... |
OMIM:619356 |
| Acromegaly |
|
Dysmenorrhea, Osteoarthritis, Wide penis, Hyperhidrosis, Pituitary prolactin cell adenoma, Hypogo... |
ORPHA:963 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98863 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
OMIM:619476 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicou... |
OMIM:140000 |
| Glucagonoma |
|
Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev... |
ORPHA:97280 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
| Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Decreased body weight, Dysplastic pulmona... |
OMIM:300958 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Death in infancy, Bicornuate uterus |
OMIM:258320 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Inguinal hernia, Diabetes mellitus, Absent gallbladder, Congenital diaphrag... |
OMIM:600001 |
| Familial Expansile Osteolysis |
|
Bowing of the long bones, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Polyhydramnios, Hydrops fetalis, Finger ... |
ORPHA:99776 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Hypercholesterolemi... |
ORPHA:69663 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Peritonitis, Abnormal blood ion concent... |
ORPHA:810 |
| Klippel-TrƩnaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Microcytic anemia, Lower limb asymmetry, Abnormality o... |
ORPHA:90308 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Hyperactivity, Joint laxity, Aggressive behavior |
ORPHA:457260 |
| 4H Leukodystrophy |
|
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... |
ORPHA:289494 |
| White-Sutton Syndrome |
|
Joint laxity, Overfriendliness, Hyperactivity, Short stature, Congenital diaphragmatic hernia, Mi... |
OMIM:616364 |
| Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Compulsive behaviors, Atrial septal defect,... |
ORPHA:2044 |
| Familial Calcium Pyrophosphate Deposition |
|
Arthritis, Osteoarthritis, Limitation of joint mobility, Calcification of cartilage |
ORPHA:1416 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hypothyroidism |
OMIM:304790 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:615109 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... |
ORPHA:231226 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Thrombocytopenia, Congestive heart failure, Death in adolescence, Pulmo... |
OMIM:619751 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... |
ORPHA:363958 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Premature birth, Coxa valga, Joint stiffness, Splenomegaly, Progressive psychomotor... |
OMIM:230600 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Abnormal cartilage matrix |
OMIM:245650 |
| Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hypothyroidism |
ORPHA:254913 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
| Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormo... |
OMIM:602152 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism |
OMIM:618999 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Hypoplasia of the uterus,... |
OMIM:601076 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
| Lig4 Syndrome |
|
Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism |
OMIM:619750 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Short stature, Recurrent fractures, Abnormal toe morphology, Preco... |
OMIM:163200 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Aplasia/Hypoplasia of the tibia, Genu varum, Finger syndactyly, Split h... |
ORPHA:2753 |
| Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus deformity, Neon... |
OMIM:256520 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit... |
ORPHA:1310 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Abnormality o... |
ORPHA:699 |
| Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypothyroidism, Decreased response to growth hormon... |
ORPHA:363528 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Growth delay, Os... |
OMIM:612301 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Primary amenorrhea, Anhydramnios, Hypertension, Bicornuate uterus, Talipes equinovar... |
OMIM:191830 |
| Chops Syndrome |
|
Short stature, Ventricular septal defect, Splenomegaly, Cryptorchidism, Obesity, Anomalous pulmon... |
OMIM:616368 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypert... |
ORPHA:320 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Elevat... |
OMIM:137920 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Growth delay, H... |
ORPHA:71 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... |
OMIM:620366 |
| Caudal Duplication |
|
Abnormal penis morphology, Omphalocele, Ureteral duplication, Spina bifida, Cryptorchidism, Myelo... |
ORPHA:1756 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
ORPHA:231222 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defe... |
ORPHA:96191 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| B4Galt1-Cdg |
|
Hypothyroidism |
ORPHA:79332 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacti... |
OMIM:124000 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Short stature, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:233600 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
| Ddost-Cdg |
|
Primary hypothyroidism |
ORPHA:300536 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Sandal gap, Broad hallux, Aggressive behavior, Cryptorchidism, Obesity, Self-injur... |
OMIM:616078 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
| Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Wide anteri... |
ORPHA:2143 |
| Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, P... |
OMIM:210900 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Atrial septal defect, Intrauterine growth retardation, Abnormal repetitive manneris... |
OMIM:194190 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... |
ORPHA:1525 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly, Broad first ... |
ORPHA:2751 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Short attention span, Short stature, Craniosynostosis, Aggressive behavior, Obesity, Joint hyperm... |
OMIM:619056 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Monosomy 18P |
|
Hypothyroidism |
ORPHA:1598 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Cartilage destruction, Splenomegaly, Leu... |
ORPHA:829 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Obesity, Cone-shaped epiphyse... |
ORPHA:397973 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Hypochondroplasia |
|
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Trident hand, Genu varum |
OMIM:146000 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Cryptorchidism, Rhizo-meso-acrom... |
ORPHA:163654 |
| Acute Monoblastic/Monocytic Leukemia |
|
Fever, Central hypothyroidism |
ORPHA:514 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Proximal placement of thumb, Hepatic fibrosis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, S... |
OMIM:616263 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism |
OMIM:618829 |
| Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Panhypopituitari... |
ORPHA:2162 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Genu valgum, Short foot, Hip dysplasia, Shor... |
OMIM:614078 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Abdominal obesit... |
OMIM:619321 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia, Confusion |
OMIM:148840 |
| Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Absent frontal sinuses, Congestive heart failure, Hypo... |
OMIM:253250 |
| MƩnƩtrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Immunodeficiency 61 |
|
Arthritis, Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
| Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, 3-5 toe syndactyly, Atrial septal defect, Clinodactyly of the 5th finger, ... |
OMIM:300707 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda... |
OMIM:258860 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism |
OMIM:617763 |
| Nephronophthisis 15 |
|
Elevated hepatic transaminase, Polydactyly, Obesity, Nephronophthisis |
OMIM:614845 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Decreased response to growth hormone stimula... |
ORPHA:529962 |
| Momo Syndrome |
|
Short stature, Large for gestational age, Abnormality of the thyroid gland, Obesity, Femoral bowi... |
ORPHA:2563 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
| Aicardi-Goutieres Syndrome 1 |
|
Fever, Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, An... |
OMIM:185070 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Poly... |
OMIM:229850 |
| Adiposis Dolorosa |
|
Xerostomia, Hypothyroidism |
ORPHA:36397 |
| Fryns Syndrome |
|
Thickened nuchal skin fold, Omphalocele, Multicystic kidney dysplasia, Hypospadias, Polyhydramnio... |
ORPHA:2059 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short ... |
OMIM:605274 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency |
ORPHA:300298 |
| Liver Disease, Severe Congenital |
|
Micrognathia, Biliary hyperplasia, Cardiomegaly, Abnormal left ventricular function, Leukopenia, ... |
OMIM:619991 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Ectopic kidney, Flexion contracture, Hypoplastic iliac wi... |
OMIM:263650 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Growth delay, Glycosuria, Hypokalem... |
ORPHA:3337 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax... |
ORPHA:93357 |
| Desbuquois Dysplasia 2 |
|
Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint laxity, Short ... |
OMIM:615777 |
| 9P13 Microdeletion Syndrome |
|
Microretrognathia, Short stature, External genital hypoplasia, Joint stiffness, Precocious pubert... |
ORPHA:324313 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Vesicoureteral reflux, Hyper... |
ORPHA:444077 |
| Neurofibromatosis Type 1 |
|
Short stature, Recurrent fractures, Joint stiffness, Precocious puberty, Cryptorchidism, Abnormal... |
ORPHA:636 |
| MĆ¼llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Micrognathia, Postnatal... |
ORPHA:1655 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
OMIM:606367 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... |
ORPHA:231214 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Hallux valgus, Cone-shaped epiphysis, Obesity |
OMIM:606772 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroiditis |
OMIM:613385 |
| Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... |
ORPHA:2905 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
| Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Mi... |
OMIM:616007 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Intermittent hypothermia, Hyperhidrosis |
OMIM:608643 |
| Gaisbƶck Syndrome |
|
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Overwe... |
ORPHA:90041 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty, Pes planus, 2-3 toe cutaneous syndactyly, Pes cavus |
OMIM:300801 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, G... |
OMIM:615866 |
| Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Short attention span, Decreased fetal movement, Hyperactivity, Premature birth, Tal... |
ORPHA:589821 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Short stature, Micromelia, Small for gestational age, Wi... |
OMIM:613320 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Post... |
ORPHA:93325 |
| Microsporidiosis |
|
Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphaden... |
ORPHA:2552 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide a... |
ORPHA:15 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Overlapping toe, Endometriosis, Left-to-right shunt... |
ORPHA:363444 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Temperature instability, Decreased sweating due to autonomic dysfunction, Hypothermia |
ORPHA:99027 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... |
ORPHA:198 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Autoimmunity, Right ventricular failure, Reduced circulating transferrin concentrati... |
ORPHA:90363 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Precocious puberty, Cryptorchidism, Raynaud phenomenon, Hyperhidrosis, Unilateral r... |
ORPHA:2874 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl... |
OMIM:269150 |
| Shashi-Pena Syndrome |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617190 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, Short stature, Tapered finger |
ORPHA:85280 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... |
OMIM:619638 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Pancrea... |
OMIM:267000 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:158350 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Jaundice, Hyperammonemia, Hyperhomocysti... |
ORPHA:79282 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Hypothyroidism, Delayed puberty |
ORPHA:456312 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux... |
OMIM:107480 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Death in infancy, Broad hallux, Micrognathia, Obesity, Hypoplastic left heart, Polysplenia, Clino... |
OMIM:610543 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Baralle-Macken Syndrome |
|
Pes planus, Urinary incontinence, Obesity, Tapered finger |
OMIM:619255 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529799 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb... |
OMIM:261540 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hypothyroidism |
OMIM:617796 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal femur morphology, Pericardial effusion, Hepatosplenomegaly, Abnorma... |
ORPHA:464329 |
| Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Testicula... |
OMIM:618165 |
| Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Hypospadias, Ventricular septal defect, Proxim... |
ORPHA:2438 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Flexion contracture, Growth delay, Intrauterine growth retardation, Hepatic steatosis... |
OMIM:616271 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Micropenis, Sho... |
OMIM:134780 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Micrognathia... |
OMIM:224410 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Abnormal toe morphology, Obesity, Telangiectasia, Cognitive impairment, Dis... |
ORPHA:459033 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S... |
ORPHA:93316 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Hypoalbuminemia, Weight loss |
ORPHA:67 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
| Microform Holoprosencephaly |
|
Hypothyroidism, Panhypopituitarism, Maternal diabetes |
ORPHA:280200 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Flat acetabular roo... |
ORPHA:2976 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Weight loss, Abnormality of the live... |
ORPHA:85443 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormal pelvis bone morphology, Obesity, Palmoplantar keratoderma |
ORPHA:2206 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Small pituitary gland |
OMIM:614195 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Short stature, Micrognathia, Small hand, Obesity, Genu valgum, Short foot, Short 5t... |
OMIM:618443 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Patent foramen ov... |
ORPHA:438213 |
| Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, Ureteral duplication, Polyh... |
ORPHA:373 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Truncal obesi... |
ORPHA:3224 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Sandal gap, Tapered finger, Aggressive behavior, Obesity, Compulsive behaviors, Cl... |
OMIM:618430 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormal lym... |
ORPHA:543 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Maternal diabetes, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, D... |
ORPHA:93346 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous fi... |
OMIM:614976 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Abnormal repetitive mannerisms |
OMIM:619877 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma,... |
ORPHA:109 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Hypospadias, Oral-pharyngeal dysphagia, Postnatal growth ... |
OMIM:619184 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragma... |
ORPHA:261197 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Polyhydramnios, Bicuspid pulmonary valve, Clitora... |
ORPHA:709 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Congenital foot contractures, Neonatal hypoglycemia, Intrauterine growth retardation |
ORPHA:565624 |
| Shox-Related Short Stature |
|
Short stature, Micrognathia, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth... |
ORPHA:314795 |
| Charge Syndrome |
|
Bifid scrotum, Polyhydramnios, Abnormal tibia morphology, Abnormality of bone mineral density, Co... |
ORPHA:138 |
| Melas |
|
Hypoparathyroidism, Fever, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatit... |
ORPHA:550 |
| 46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Hypoalbuminemia, Macrovesicular hepatic steatosis |
OMIM:617303 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi... |
ORPHA:93111 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
ORPHA:228426 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Scarring alopecia of scalp, Flexion contracture, Severe postnatal growth retardati... |
ORPHA:35173 |
| Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Hepatic cysts, Brachydactyly |
OMIM:613819 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating ... |
ORPHA:36234 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Hy... |
ORPHA:99827 |
| Leigh Syndrome |
|
Multiple joint contractures, Hypoglycemia, Growth delay, Hepatic failure, Hyperalaninemia, Failur... |
ORPHA:506 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
OMIM:614700 |
| Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Bowing of the legs, Short palm, Neonatal death, Patent foramen ovale, Hepatomegal... |
OMIM:269860 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Decreased circulating cortisol level, Dextrocardia, Short hallux, Mi... |
OMIM:620305 |
| Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu... |
ORPHA:778 |
| Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:609053 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the ulna, Split hand, Bicornuate ute... |
OMIM:200980 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:293939 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal ossification, Patellar h... |
OMIM:114290 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Thyroid lymphangiectasia, Cryptorchidism, Hypoalbuminemia, Cam... |
OMIM:235510 |
| Chromosome 17Q12 Deletion Syndrome |
|
Micrognathia, Pica, Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Short stature... |
OMIM:614527 |
| Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Blind vagina, Death in childhood, Scimitar anomaly, Atrial septal defect, ... |
OMIM:608978 |
| Immunodeficiency 31C |
|
Fever, Diabetes mellitus, Hypothyroidism, Delayed puberty |
OMIM:614162 |
| Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Hepatic failure, Hyperalaninemia, Failure... |
OMIM:252010 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Micrognathia, Joint stiffness, Cryptorchidism... |
OMIM:618820 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism |
ORPHA:85321 |
| Neuroleptic Malignant Syndrome |
|
Fever, Hypothermia, Hyperhidrosis |
ORPHA:94093 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Cardiomegaly, Metaphyseal widening... |
OMIM:252500 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Micrognathia, Ambiguous genitalia, female, Primary amenorrhea, Deformed humer... |
ORPHA:2975 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyceridem... |
ORPHA:98908 |
| Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ... |
OMIM:136140 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Tapered finger, Obesity, Long hallux, Stereotypical hand wringing |
OMIM:619854 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:619234 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... |
ORPHA:449285 |
| Hydranencephaly |
|
Stiff neck, Postnatal growth retardation, Dilatation of the ventricular cavity, Thalamic edema, I... |
ORPHA:2177 |
| Aspartylglucosaminuria |
|
Pes planus, Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Abnormal morphology of ulna, J... |
ORPHA:93 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity, Bruxism, Recurrent hand flapping, Slender finger |
OMIM:613192 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Micrognathia, Talipes calcaneovalgus, Vesicoureteral reflux, Micropenis, Paroxysma... |
OMIM:309580 |
| Meckel Syndrome 12 |
|
Rocker bottom foot, Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus... |
OMIM:616258 |
| Galloway-Mowat Syndrome 3 |
|
Short stature, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Intrauterine growth retardation, Fa... |
OMIM:617729 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into... |
ORPHA:358 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| Menkes Disease |
|
Hypoglycemia, Hypothermia |
ORPHA:565 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation,... |
OMIM:618395 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, Secundum atrial septal defect, Short palm, Atrial septal defect, Patent... |
OMIM:249420 |
| Lesch-Nyhan Syndrome |
|
Short stature, Megaloblastic anemia, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocal... |
OMIM:300322 |
| Kabuki Syndrome 2 |
|
Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati... |
OMIM:300867 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Metaphyseal cupp... |
OMIM:614524 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Po... |
ORPHA:3472 |
| Optic Pathway Glioma |
|
Precocious puberty, Growth delay |
ORPHA:2086 |
| Fucosidosis |
|
Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Woolly Hair Nevus |
|
Precocious puberty, Brachydactyly |
ORPHA:79414 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Knee ... |
ORPHA:3103 |
| Bardet-Biedl Syndrome 21 |
|
Elevated hepatic transaminase, Overweight, Postaxial hand polydactyly, Obesity, Horseshoe kidney |
OMIM:617406 |
| Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Tri... |
ORPHA:100079 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Severe short stature, Osteopenia, ... |
OMIM:156400 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia, Supernumerary nipple |
ORPHA:457279 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Pes planus, Prominent fingertip pads, Short stature, Joint h... |
OMIM:619950 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... |
ORPHA:239 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Flexion contracture, Flared metaphysis, Prominent inter... |
OMIM:215150 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo... |
ORPHA:2795 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... |
OMIM:146255 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Autoimmu... |
ORPHA:227990 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Proteinuria, Chronic kidney disease, Obesity, Hyperuricemia, Attention deficit hy... |
ORPHA:261222 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Mi... |
ORPHA:275761 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Atrial septa... |
OMIM:268300 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Umbilical hernia, Hypoglycemia |
OMIM:614501 |
| Xylt1-Cdg |
|
Hepatomegaly, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck... |
ORPHA:370930 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
| Tay-Sachs Disease |
|
Short attention span, Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Precocious ... |
ORPHA:845 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Nail-biting, Small scrotum, Sandal gap, Ventricular septal defect, Aggressive behav... |
OMIM:620330 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... |
OMIM:276820 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:227982 |
| White-Kernohan Syndrome |
|
Joint laxity, Hydroureter, Obesity, Horseshoe kidney, Hip dysplasia, Rectovaginal fistula, Attent... |
OMIM:619426 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:618922 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Mi... |
ORPHA:85184 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Polyhydramnios |
ORPHA:521390 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Arachnodactyly, Short stature, Recurrent fractures, Ectopic kidney, Crypto... |
ORPHA:3063 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Aggressive behavior, Pica, Obesity, Organic aciduria, Joint hypermobility |
OMIM:620191 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Short stature, Ventricular septal defect, Proportionate short... |
OMIM:608328 |
| Cenani-Lenz Syndrome |
|
Hypothyroidism |
ORPHA:3258 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism |
OMIM:619147 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Bulimia, Obesity, Mitral regurgitation, Pulmonary arterial hype... |
OMIM:614651 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
| Alkaptonuria |
|
Joint stiffness, Cartilage destruction, Osteoarthritis, Nephrolithiasis, Reduced bone mineral den... |
ORPHA:56 |
| Ethylene Glycol Poisoning |
|
Hypothermia |
ORPHA:31826 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism |
OMIM:617713 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Short stature, Talipes, Polyhydramnios, Micrognathia, Joint hypermobilit... |
OMIM:300990 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Elevated circulating parathyroid hormone level, Pheochromocytoma,... |
ORPHA:97685 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Neutrophilia, Confusion, Elevated circulating C-reactive protein concen... |
ORPHA:36238 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... |
ORPHA:85167 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:99826 |
| Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Short stature, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Intraute... |
OMIM:251300 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Heart m... |
OMIM:615418 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100080 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone oss... |
ORPHA:93315 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Pagod Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal... |
ORPHA:991 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Increased connective tissue, Hiatus hernia,... |
OMIM:606408 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... |
OMIM:301013 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Short attention span, Hyperactivity, Abnormal eating behavior, ... |
ORPHA:98794 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Micrognathia, Postnatal growth retardation, Long fingers, In... |
OMIM:615668 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Premature delivery because of cervical insufficiency or membrane fragility, Hypermobility of dist... |
OMIM:130050 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia |
ORPHA:255210 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... |
ORPHA:1435 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, True hermaphroditism, Septate v... |
OMIM:194080 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... |
ORPHA:2769 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
| X-Linked Intellectual Disability, Hedera Type |
|
Pes planus, Calcaneovalgus deformity, Obesity, Absent Achilles reflex, Left ventricular hypertrop... |
ORPHA:93952 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1812 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Aggressive behavior, Micrognathia, Obesity, Overgrowth |
OMIM:620250 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Abnormal tibia morphology, Hydrops fetalis, Foot o... |
ORPHA:2879 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention deficit h... |
OMIM:617914 |
| Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial ... |
OMIM:225500 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Glucose intolerance, Hypothyroidism, Goiter |
ORPHA:254892 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100082 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Pes planus, Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Preco... |
OMIM:616682 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Self-injurious behavior, Uterine rupture, Attention ... |
ORPHA:649 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Short stature, Follicular thyroi... |
ORPHA:201 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary cystadenom... |
ORPHA:892 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischi... |
OMIM:228520 |
| Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma... |
ORPHA:3404 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL... |
ORPHA:209902 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal... |
ORPHA:288 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli... |
OMIM:614091 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Sarcoidosis |
|
Fever, Hyperthyroidism, Diabetes insipidus, Hypothermia, Abnormality of the adrenal glands, Hypot... |
ORPHA:797 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Wide anteri... |
OMIM:222448 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Hypoglycemia |
OMIM:620224 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Sandal gap, Obesity, Brachydactyly |
ORPHA:2180 |
| Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Edema of the dorsum of feet, Polyhydramnios, Micrognat... |
OMIM:601803 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thromboc... |
ORPHA:98850 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Growth delay, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive |
ORPHA:79396 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Short stature, Congenital diaphragmatic hernia, Ovotestis, Ventric... |
OMIM:309801 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Oculoskeletodental Syndrome |
|
Hypothyroidism |
OMIM:618440 |
| Koolen-De Vries Syndrome |
|
Hypothyroidism |
ORPHA:96169 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Absent or minimally o... |
ORPHA:93271 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Tapered finger, Obesity, Enuresis nocturna, Attention deficit hyperactivity ... |
OMIM:619680 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Metaphyseal widening, Advanced ossification of carpal... |
OMIM:224400 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... |
OMIM:613987 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Stiff neck, Overriding aorta, Ventricular septal defect, Micrognathia, Fetal akinesi... |
OMIM:617022 |
| Neuroendocrine Tumor Of Stomach |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Iron deficiency anemia, Atypical pulmonary ca... |
ORPHA:100075 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Polyhydramnios, Micrognathia, Asplenia, Parachute mitral valve, Atrial sep... |
OMIM:265380 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
| Allan-Herndon-Dudley Syndrome |
|
Abnormality of thyroid physiology |
ORPHA:59 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exs... |
ORPHA:322 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypothyroidism, Recurrent fever, Heat intolerance |
ORPHA:453499 |
| Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
| Acrofacial Dysostosis, RodrĆguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Aortic regurgitation, Sandal gap, Short stature, Tapered finger, Micro... |
OMIM:620072 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism |
OMIM:603736 |
| Moderate Hemophilia A |
|
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Hematuria, Joint... |
ORPHA:169805 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
| Ring Chromosome 12 Syndrome |
|
Hypothyroidism |
ORPHA:1439 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Pes planus, Failure to thrive, Micrognathia, Aggressive behavior,... |
ORPHA:369950 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... |
ORPHA:2237 |
| Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
| White-Sutton Syndrome |
|
Joint laxity, Ventral hernia, Hyperactivity, Inguinal hernia, Short stature, Congenital diaphragm... |
ORPHA:468678 |
| Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Uterine rupture, Internal hemorrhage, Hypospadias, Sh... |
ORPHA:286 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Obesity |
OMIM:613464 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:177735 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Hep... |
ORPHA:93352 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... |
OMIM:300106 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tapered finger, Obesity, Genu valgum, Large hands, Long foot, Tall stature |
ORPHA:85325 |
| Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio... |
ORPHA:31150 |
| Faundes-Banka Syndrome |
|
Pes planus, Premature thelarche, Micrognathia, Fetal ascites, Cryptorchidism, Dysphagia, Delayed ... |
OMIM:619376 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries |
ORPHA:137675 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplasia, Adr... |
OMIM:130650 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
| Chromosome 1P35 Deletion Syndrome |
|
Congenital hypothyroidism |
OMIM:617930 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
| Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Dental enamel pits, Precocious puberty, Cardiac rhabdomyoma, Rena... |
OMIM:191100 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg... |
OMIM:271640 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... |
ORPHA:90062 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:614114 |
| Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Hydroureter, Bi... |
OMIM:258040 |
| Myasthenia Gravis |
|
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Glycosuria, Hashimoto... |
ORPHA:589 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
| Scorpion Envenomation |
|
Acute pancreatitis, Ketonuria, Elevated circulating aspartate aminotransferase concentration, Gly... |
ORPHA:466677 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... |
ORPHA:857 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... |
ORPHA:98907 |
| Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:1855 |
| Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Short stature, Ventricular septal defect, Progre... |
OMIM:614947 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Nuchal cord, Short femur, Short stature, Tapered finger, Short umbilical cord, Dys... |
OMIM:618367 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Orthostatic hypotension, Overweight, Obesity, Hypothalamic atrophy, Dementi... |
ORPHA:2822 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ... |
OMIM:203400 |
| Mogs-Cdg |
|
Inappropriate antidiuretic hormone secretion, Hypothyroidism |
ORPHA:79330 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... |
ORPHA:37202 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal dig... |
ORPHA:2363 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Polyhydramnios, Decreased serum leptin, Micrognathia, Flexion co... |
OMIM:614098 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hepat... |
OMIM:208500 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Hypospadias, Aplasia/Hypoplasia of the sternum, C... |
OMIM:219000 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Jaundice, M... |
ORPHA:549 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short attention span, Short metacarpal, Short stature, Polyhydramnios, Short metatarsal, Pseudohy... |
OMIM:617157 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Ventricular septal defect, Precocious puberty, Self-injurious behavior, Short fing... |
ORPHA:1934 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Short stature, Ventricular septal defect, Proportionate short stature, Joint st... |
OMIM:277600 |
| Okamoto Syndrome |
|
Omphalocele, Ureteropelvic junction obstruction, Ventricular septal defect, Talipes, Urinary inco... |
ORPHA:2729 |
| Monosomy 18Q |
|
Hypothyroidism, Secondary growth hormone deficiency |
ORPHA:1600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Hypoglycemia, Hypospadias, Increased hepatocellular lipid droplets, M... |
OMIM:220111 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Neonatal hypoglycemia |
ORPHA:572798 |
| Isolated Biliary Atresia |
|
Xanthelasma, Hypopituitarism, Hypothyroidism |
ORPHA:30391 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Impotence, Dementia, Pollakisuria, Compulsive behaviors, Dysphagia, Hypotension, Me... |
ORPHA:93256 |
| Trichohepatoneurodevelopmental Syndrome |
|
Recurrent pancreatitis, Hypothyroidism, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:618268 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma, Hypoalbuminemia, Short stature |
ORPHA:79076 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... |
OMIM:180700 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Congenital hypothyroidism |
ORPHA:2519 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hypoalbuminemia, Hernia, Hepatosplenomegaly |
ORPHA:505248 |
| Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Toe syndactyly... |
ORPHA:2052 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Flared metaphysis, Femoral bow... |
OMIM:618019 |
| Pseudoxanthoma Elasticum |
|
Hypothyroidism |
ORPHA:758 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... |
OMIM:263800 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou... |
ORPHA:83628 |
| Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub... |
OMIM:613254 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Aggressive behavior, Dilatation of renal calices, Obesity, Dysphagia, Self-injurious ... |
ORPHA:466950 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrh... |
ORPHA:99147 |
| Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Growth delay, Jaundice, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
| Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Urina... |
ORPHA:556 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Premature thelarche, Micrognathia, Atrial septal defect, Prominent fi... |
OMIM:147920 |
| Familial Adenomatous Polyposis |
|
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... |
ORPHA:733 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... |
OMIM:119800 |
| Martin-Probst Syndrome |
|
Hypothyroidism |
OMIM:300519 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Pes planus, Inguinal hernia, Abnormality of the menstrual cycle, Abnormal foot morphology, Osteoa... |
ORPHA:285 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Hypothermia, Hyperhidrosis, Unexplained fevers, Recurrent fever |
ORPHA:642 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Renal insufficiency, Toe syndactyly, Short stature, Mitral atresia, Ectopic... |
ORPHA:140952 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Micrognathia, Retinal telangiectasia, Obesity, Overgr... |
OMIM:620155 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l... |
OMIM:607485 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an... |
OMIM:618280 |
| Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular... |
OMIM:600002 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
| Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious puberty, Postnatal growth ... |
OMIM:304050 |
| Atelis Syndrome 2 |
|
Pes planus, Micrognathia, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone conc... |
OMIM:620185 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Precocious puberty, Hiatus hernia, Small hand, Multiple lipomas, H... |
ORPHA:50 |
| Aicardi-GoutiĆØres Syndrome |
|
Diabetes mellitus, Hypothyroidism, Unexplained fevers |
ORPHA:51 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism |
OMIM:613673 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism |
OMIM:607944 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hyperhidrosis, Hypothyroidism, Recurrent fever, Heat intolerance |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hyperhidrosis, Hypothyroidism, Recurrent fever, Heat intolerance |
ORPHA:352665 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Central hypothyroidism |
OMIM:300998 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulat... |
OMIM:222700 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Obesity, Camptodactyly o... |
ORPHA:251038 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Aplasia/... |
ORPHA:1521 |
| Interstitial Lung And Liver Disease |
|
Hypothyroidism |
OMIM:615486 |
| Geleophysic Dysplasia 1 |
|
Short palm, Hepatomegaly, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irreg... |
OMIM:231050 |
| Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Hyperlipidemia, Abnormality of thyroid physiology |
ORPHA:1830 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Hypothyroidism |
ORPHA:457212 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Hypospadias, Micrognathia, Phimosis,... |
ORPHA:75857 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... |
OMIM:127000 |
| Lymphatic Malformation 6 |
|
Hypothyroidism |
OMIM:616843 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Short palm, Pes planus, Aggressive behavior, Dilatation of renal calices, Obesity, Dysphagia, Sel... |
ORPHA:466943 |
| Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Shock, Renal insufficiency, Stiff neck, Confusion, Elevated circul... |
ORPHA:319213 |
| Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis... |
ORPHA:237 |
| Momo Syndrome |
|
Obesity, Large hands, Overgrowth, Short sternum, Long foot |
OMIM:157980 |
| Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid agenesis, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia |
ORPHA:3047 |
| Isolated Exencephaly |
|
Polyhydramnios, Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes |
ORPHA:563612 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Chromosome 3Q29 Duplication Syndrome |
|
Pes planus, Obesity |
OMIM:611936 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Joint laxity... |
OMIM:218330 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis |
ORPHA:2396 |
| Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Atrial septal def... |
OMIM:300373 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, F... |
ORPHA:2152 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Compensated hypothyroidism |
ORPHA:247691 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale... |
ORPHA:427 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransp... |
OMIM:306955 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
| Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Obesity |
OMIM:105830 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Palmoplantar hyperhidrosis, Congenital hypothyroidism |
OMIM:617527 |
| Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Glycosuria |
ORPHA:411634 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormality of the endocrine system, Thyroiditis, Primary hypothyroidism, Delayed puberty, Type I... |
ORPHA:391487 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Death in infancy, Short stature, Micrognathia, Coxa valga, Hip dislocatio... |
OMIM:619297 |
| Aicardi-Goutieres Syndrome 7 |
|
Fever, Hypothyroidism |
OMIM:615846 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split... |
OMIM:171480 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism |
OMIM:300912 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma |
ORPHA:276399 |
| Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Micrognathia, Precocious puberty, Cardiac rhabdomyoma, Attention deficit hyperact... |
OMIM:618971 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... |
ORPHA:100078 |
| Loeys-Dietz Syndrome |
|
Pes planus, Aortic dissection, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn... |
ORPHA:60030 |
| Chromosome 22Q13 Duplication Syndrome |
|
Short attention span, Impulsivity, Polyphagia, Attention deficit hyperactivity disorder |
OMIM:615538 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Premature rupture of mem... |
ORPHA:287 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis |
ORPHA:70578 |
| Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Lymp... |
ORPHA:98849 |
| Scleromyxedema |
|
Abnormality of thyroid physiology |
ORPHA:167635 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Short stature, Thrombocytosis, Impaired neutrophil chemota... |
ORPHA:2968 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Premature birth, Small for gestational age, Elevated circulating C-rea... |
ORPHA:90051 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Hyperhidrosis, Intracranial hemorrhage, Tubulointerstitial nephritis, Acute tubulointerst... |
ORPHA:340 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Short stature, Limb joint contracture, Tapered finger, Splenomegaly, Micronodular c... |
OMIM:301072 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Obesity, Polyhydramnios |
OMIM:617296 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
| Bilateral Polymicrogyria |
|
Central hypothyroidism |
ORPHA:268940 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Micrognathia, Clinodactyly of the 5th finger, Prominent fingertip pads, At... |
OMIM:612474 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypothyroidism |
ORPHA:1556 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Short stature, Ventricular septal defect, Broad ischia, ... |
OMIM:619727 |
| Holoprosencephaly 1 |
|
Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia |
OMIM:236100 |
| Hallermann-Streiff Syndrome |
|
Hypothyroidism |
ORPHA:2108 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Weight loss, Hypo... |
OMIM:619381 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Exocrine pancreatic insufficiency |
OMIM:620005 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... |
ORPHA:2634 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Hypothyroidism, Thyroid hypoplasia, Congenital hypothyroidism |
OMIM:620186 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Hypothyroidism |
ORPHA:1052 |
| Perry Syndrome |
|
Dementia, Hypotension, Weight loss |
ORPHA:178509 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Rhizomelia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, Recurrent patellar d... |
OMIM:615877 |
| Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus |
ORPHA:84064 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arachnodactyly, Ost... |
ORPHA:284984 |
| Costello Syndrome |
|
Achilles tendon contracture, Failure to thrive, Short stature, Hypoglycemia |
OMIM:218040 |
| Hennekam-Beemer Syndrome |
|
Short stature, Camptodactyly of finger, Mastocytosis, Lower limb asymmetry, Micrognathia, Telangi... |
ORPHA:2135 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Confusion, Heart block, Elevated circulating creatini... |
ORPHA:542323 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... |
ORPHA:91547 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Acute kidney injury, Confusion, Hyperhidrosis, Hypertension, Agitation... |
ORPHA:43116 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
| Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension, Lymphadenopathy |
ORPHA:79455 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Micrognathia, Slender long bone, Polydactyly, Hypoplastic ... |
OMIM:612731 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Pedal edema, Weight loss,... |
ORPHA:188 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Congestive ... |
OMIM:160980 |
| Cystinosis, Nephropathic |
|
Diabetes mellitus, Hypohidrosis, Glycosuria, Primary hypothyroidism, Delayed puberty, Male hypogo... |
OMIM:219800 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Short stature, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postaxial hand ... |
OMIM:617088 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... |
OMIM:193300 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Increased circulating prolactin concentration |
OMIM:617675 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Slender build, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457359 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Bowing of the legs, Hip subluxation, Metatarsus adductus, Fla... |
OMIM:271665 |
| Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
| Cerebrotendinous Xanthomatosis |
|
Hypothyroidism |
ORPHA:909 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial septal defect, Abdominal aorti... |
OMIM:613795 |
| Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Glycosuria |
ORPHA:411629 |
| Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Short foot, Micropenis, Spina bifida occulta, Thickened cortex of long bo... |
ORPHA:488434 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of thyroid physiology |
OMIM:300968 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Occipital encephalocele, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Obesity, Vesicoureteral reflux, Hypohidrosis, Large hands, Bruxism, ... |
ORPHA:48652 |
| Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tube morphology, ... |
ORPHA:722 |
| Poliomyelitis |
|
Stiff neck, Confusion, Anorexia, Hypertension, Hypovolemic shock, Agitation, Hypotension, Dysphag... |
ORPHA:2912 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis |
ORPHA:29207 |
| Scrub Typhus |
|
Renal insufficiency, Myocarditis, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Hypotension |
ORPHA:83317 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Ebstein anomaly of the tricuspid valve, Rectovaginal fistula, Unilateral rena... |
OMIM:608980 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism |
OMIM:271510 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Xerostomia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Down Syndrome |
|
Hypothyroidism |
OMIM:190685 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... |
ORPHA:99828 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Congenital hypothyroidism |
OMIM:616973 |
| Gabriele-De Vries Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:506358 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Cachexia |
ORPHA:75565 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uterus |
ORPHA:2736 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Anterior pituita... |
ORPHA:2255 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity, Short stature |
OMIM:617547 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig... |
ORPHA:97292 |
| Microphthalmia, Syndromic 2 |
|
Hypothyroidism, Adrenal insufficiency |
OMIM:300166 |
| Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Micrognathia, Obesity, Self-injurious behavior, Se... |
ORPHA:293948 |
| Coffin-Siris Syndrome 12 |
|
Hypothyroidism |
OMIM:619325 |
| Inhalational Anthrax |
|
Internal hemorrhage, Confusion, Hypotension, Abnormal sweat gland morphology |
ORPHA:247257 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Premature birth, Cardiac arrest, Bradycardia, Hypotension |
ORPHA:70587 |
| Currarino Syndrome |
|
Absence of the sacrum, Neurogenic bladder, Urinary incontinence, Septate vagina, Horseshoe kidney... |
OMIM:176450 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
| Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Adrenal hypoplasia, Anterior hypopituitarism, Abnormality of the hypothalamu... |
OMIM:607932 |
| Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Cryptorchidism, Bilat... |
ORPHA:821 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolem... |
ORPHA:31824 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Central hypothyroidism |
ORPHA:798 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypothyroidism, Primary hypothyroidism, Exocrine pancreatic insufficiency |
OMIM:243800 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... |
OMIM:174000 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperph... |
ORPHA:428 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
| Ring Chromosome 13 Syndrome |
|
Primary hypothyroidism |
ORPHA:96176 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Acute kidney injury, Sinus tachycardia, Confusion, Elevated ci... |
ORPHA:466650 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Genitopatellar Syndrome |
|
Hypothyroidism |
OMIM:606170 |
| Retinitis Pigmentosa 74 |
|
Polydactyly, Obesity |
OMIM:616562 |
| Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
| Viss Syndrome |
|
Hypothyroidism |
OMIM:619472 |
| Plague |
|
Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enla... |
ORPHA:707 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Anorexia, First degree atrioventricular block, Cellular urinary casts... |
ORPHA:509 |
| Renal Tubular Dysgenesis |
|
Anuria, Hypotension, Oligohydramnios |
OMIM:267430 |
| Hereditary Angioedema Type 1 |
|
Hypotension, Dysphagia |
ORPHA:100050 |
| Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis |
OMIM:143890 |
