| Acid-Labile Subunit Deficiency |
|
Delayed puberty, Mild postnatal growth retardation, Insulin insensitivity, Decreased serum insuli... |
OMIM:615961 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, In... |
OMIM:613370 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... |
OMIM:609698 |
| 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 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Increased circulating free T4 concentration, Euthyroid hyperthyroxinemia |
OMIM:615999 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Abnormality of body weight, Delayed puberty, Decreased seru... |
ORPHA:314811 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... |
ORPHA:171706 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy... |
OMIM:232700 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Intrauterine growth retardation |
OMIM:601410 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... |
OMIM:262400 |
| Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia, Growt... |
ORPHA:314802 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Short stature, Absence of secondary sex characteristics, Decreased testicular size, Type II diabe... |
ORPHA:163976 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... |
OMIM:274500 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Hyper... |
ORPHA:66628 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Hyper... |
ORPHA:179494 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small hand, Hypogonadism, Short stature, Small for gestational age, Decreased testicular size, In... |
OMIM:300869 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Small hand, Short stature, Absence of secondary sex characteristics, Decreased testicular size, C... |
ORPHA:163971 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cholangiocarcinoma, Ch... |
ORPHA:465508 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Short 5th finger, Abnormality of the testis size, Generalized join... |
ORPHA:99330 |
| Growth Hormone Insensitivity, Partial |
|
Decreased serum insulin-like growth factor 1, Short stature |
OMIM:604271 |
| Thyroid Dyshormonogenesis 3 |
|
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma |
OMIM:274700 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism |
OMIM:300123 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase... |
ORPHA:446 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, T lymphocytopenia, Multiple joint contractures, Micrognathia,... |
ORPHA:2959 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Hypogonadism |
OMIM:616113 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Flexion contracture, Small pituitary gland, Primary a... |
ORPHA:398069 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
| Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... |
ORPHA:739 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Generalized joint laxity,... |
ORPHA:432 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Severe short stature, Hypoglycemia, Intrauterine growth retardation |
OMIM:223500 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Hypoglycemia, Maternal autoimmune disease, Decreased circulating T4 concentra... |
ORPHA:226307 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398079 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Short stature |
ORPHA:366 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
| Aarskog-Scott Syndrome |
|
Broad foot, Short 5th finger, Radial deviation of finger, Short palm, Hyperextensibility of the f... |
OMIM:305400 |
| Phosphoserine Phosphatase Deficiency |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:614023 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Short stature, Type II diabetes mellitus,... |
ORPHA:181393 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Cirrhosis, Hepatic failure, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Short stature, Hepatocellular carcinoma, Elevated hepatic transamina... |
ORPHA:369 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... |
ORPHA:90791 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
| Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Decreased circulating T4 concentration, ... |
ORPHA:98754 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Short sta... |
OMIM:619868 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension, Decreased response to growth hormone stimulation test, Decreased testicular size, De... |
ORPHA:95619 |
| Meningioma |
|
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... |
ORPHA:2495 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Decreased circulating T4 concentration, ... |
ORPHA:98793 |
| Xq27.3Q28 Duplication Syndrome |
|
Small hand, Hypogonadism, Short stature, Decreased testicular size, Premature ovarian insufficien... |
ORPHA:261483 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Tapered finger, Hypogonadism, Short stature, Hypoplasia of penis, Cryptorchidism, Obesity, Microp... |
ORPHA:85274 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Decreased circulating T4 concentration, ... |
ORPHA:177904 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Cognitive impairment, Hypogonadism, External genital hypoplasia, Syndactyly, Brachyd... |
OMIM:615983 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Decreased circulating T4 concentration, ... |
ORPHA:177901 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Polyhydramnios, Intrauterine gr... |
OMIM:619761 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Obesity, Insulin resistance, Hypertension, H... |
OMIM:615703 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Polyphagia, Primary amenorrhea, ... |
OMIM:614962 |
| Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnormal bone oss... |
ORPHA:79106 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus, Intrauterine growth retardation |
OMIM:606176 |
| Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Decreased circulating T4 concentration, ... |
ORPHA:398073 |
| Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Maternal virilization in pregnancy, Ambiguous genitalia, Flexion contracture, Decreased circulati... |
ORPHA:95699 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
| Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
| Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
| Gcgr-Related Hyperglucagonemia |
|
Increased glucagon level, Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract mor... |
ORPHA:438274 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
| Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperinsulinemia, Broad foot, Short stature, Secondary amenorrhea, Decreased testicula... |
ORPHA:3085 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ad... |
OMIM:604367 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... |
ORPHA:2232 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:615158 |
| Glycogen Storage Disease Ixb |
|
Hyperuricemia, Short stature, Increased hepatic glycogen content, Hypoglycemia, Growth delay, Hep... |
OMIM:261750 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Short foot, Small hand... |
ORPHA:254516 |
| Slc35A2-Cdg |
|
Short tibia, Hip subluxation, Camptodactyly of finger, Precocious puberty, Coxa valga, Prenatal m... |
ORPHA:356961 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Short stature |
ORPHA:329249 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Minim... |
ORPHA:280365 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Short stature, Diabetic ketoacidosis, Hypoglycemia, Postpra... |
OMIM:262190 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
| Prader-Willi Syndrome |
|
Polyhydramnios, Precocious puberty, Adrenal insufficiency, Radial deviation of finger, Low 1-minu... |
OMIM:176270 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity, Hypogonadism |
OMIM:615988 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
| Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kin... |
OMIM:232400 |
| Riboflavin Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:615026 |
| Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced circulating prolactin concentration, Inappropriately normal thyroid-stimu... |
OMIM:300888 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
| Legg-CalvƩ-Perthes Disease |
|
Cartilage destruction, Short stature |
ORPHA:2380 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... |
ORPHA:289548 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... |
ORPHA:168558 |
| Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypercho... |
ORPHA:528 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Precocious puberty, Flexion contracture, Short foot, ... |
OMIM:616222 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,... |
OMIM:273250 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... |
OMIM:188570 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Cognitive impairment, Short stature, Hypogonadism, External genital hypoplasia, Stag... |
OMIM:615993 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level, Abnormal urine carbohydrate level |
ORPHA:2056 |
| Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Hypothermia, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
| Schaaf-Yang Syndrome |
|
Fetal akinesia sequence, Flexion contracture, Tapered finger, Short foot, Hypogonadism, Small han... |
OMIM:615547 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Moderate postnatal growth retardation, Hyperglycemia, Abnormal or... |
ORPHA:69076 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Short stature, Motor deterioration, Reduced subcutaneous adipose tissue, Small pituitary gland, D... |
OMIM:612079 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... |
OMIM:619386 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Small hand, Short stature, External genital hypoplasia, Decreased fetal movement, Abn... |
ORPHA:177910 |
| Wolfram-Like Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes mellitus, Delayed pube... |
ORPHA:411590 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hepatomegaly, Hyperchol... |
OMIM:306000 |
| Adenohypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95512 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response t... |
ORPHA:3464 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Primary amenorrhea, Genu valgum, Decreased testicular size, Small pituitary gland, Osteoporosis, ... |
OMIM:614880 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly, Hypogonadism, Renal cyst, Renal insufficiency, Obesity |
OMIM:615987 |
| Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... |
ORPHA:556037 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... |
ORPHA:35878 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Oligomenorrhea, Increased adipose tissue around the ... |
ORPHA:435660 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Short stature, Small for gestational age, Micrognathia, Clinodactyly... |
ORPHA:73272 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Ambiguo... |
ORPHA:1772 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Thin bony cortex, Generalized bone demineraliz... |
OMIM:600785 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Fever, Increased circulating cortisol level |
OMIM:614674 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:610006 |
| Glucocorticoid Deficiency 2 |
|
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido,... |
ORPHA:91349 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Aromatase Deficiency |
|
Maternal virilization in pregnancy, Ambiguous genitalia, female, Hepatic steatosis, Female pseudo... |
ORPHA:91 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Pseudobulbar paralysis, Pes cavus, Decreased serum testosterone ... |
ORPHA:101006 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Short 4th metacarpal, Increased bone mineral density, Hypocalcemic seizures,... |
ORPHA:79444 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614492 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Hyponatremia, Increased circulating ACTH level, Decreased circulating cortiso... |
OMIM:614736 |
| Familial Partial Lipodystrophy, Kƶbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
| Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Calf muscle hypertrophy, Oligomenorrhea, Loss of fac... |
ORPHA:435651 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine concentr... |
ORPHA:6 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Elevated circula... |
OMIM:613752 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Recurrent fractures, Short stature, Absence of secondary sex characteristics... |
ORPHA:2410 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal radioactive... |
ORPHA:226316 |
| Ollier Disease |
|
Anemia, Precocious puberty, Multiple enchondromatosis, Osteolysis, Lymphangioma, Abnormal metaphy... |
ORPHA:296 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Elevated hepatic transaminase, Adrenal hyperplasia, Dorsocervical fat pad, Hepatic steatosis, Par... |
ORPHA:189439 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Short foot, Small hand, Micrognathia, Clinodactyly, Maturity-onset diabetes o... |
ORPHA:254531 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hepatomegaly |
ORPHA:35 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Short 4th metacarpal, Increased bone mineral density, Hypocalcemic seizures,... |
ORPHA:79443 |
| Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Birth length less than 3rd percentile, Sma... |
OMIM:300148 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Hip dysplasia, Preaxial foot polydacty... |
ORPHA:1988 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Insulin resistance, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries... |
ORPHA:79085 |
| Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adeno... |
ORPHA:913 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Decreased circulatin... |
ORPHA:226313 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... |
OMIM:610600 |
| Hydatidiform Mole |
|
Anemia, Hyperthyroidism, Enlarged uterus, Miscarriage, Preeclampsia, Menometrorrhagia |
ORPHA:99927 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Polydactyly, Short 5th finger, Micrognathia, Hypoglycemia, Ectrodactyly, Postnata... |
ORPHA:397590 |
| Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Adipose tissue loss, Long penis, Postpran... |
OMIM:246200 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... |
OMIM:274300 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Hypogonadism, Large for gestational age, Postaxial foot polydactyly, Polyphagia, Obe... |
OMIM:617119 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat... |
ORPHA:94086 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Decreased body weight, Short stature, Small for gestational age, Neonatal hypoglycemia, Hypoglyce... |
ORPHA:231140 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... |
ORPHA:26792 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Failure to thrive, Hypoglycemia, Growth delay, Hypocalcemia |
ORPHA:163693 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic... |
ORPHA:2126 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:176400 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Short stature, Decreased testicular size, Failure to thrive, Hepatomegaly, Decrease... |
OMIM:201100 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Short stature, Decreased circul... |
OMIM:613986 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Primary amenorrhea, Small pituitary gland, Delayed puberty, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:612702 |
| 48,Xxyy Syndrome |
|
Decreased testicular size, Type II diabetes mellitus, Hip dysplasia, Infertility, Hypoplasia of p... |
ORPHA:10 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea, Osteopo... |
OMIM:300604 |
| Sheehan Syndrome |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:91355 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Precocious puberty, Short foot, Small hand, Short stature, Small for gestat... |
ORPHA:96184 |
| 46,Xx Gonadal Dysgenesis |
|
Primary amenorrhea, Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Short st... |
ORPHA:243 |
| Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Labial hypertrophy, E... |
OMIM:269700 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Flexion contracture, Pericardial effusion, Elevated hepatic transaminase, Nonimmu... |
OMIM:212065 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Coronary artery a... |
ORPHA:785 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... |
ORPHA:562 |
| Alg12-Cdg |
|
Polyhydramnios, Micrognathia, Camptodactyly, Elevated hepatic transaminase, Biventricular hypertr... |
ORPHA:79324 |
| Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Decreased body weight, Abnormal testis morpholog... |
ORPHA:79474 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Labial hypertrophy, E... |
OMIM:608594 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Increased circulating prolactin concentration, Hyperostosis frontalis int... |
OMIM:144800 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gonadoblastoma, Biliary cirrhosis, Short 4th metacarpal, Aortic arch aneurysm, Micrognathia, Elev... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Gonadoblastoma, Biliary cirrhosis, Short 4th metacarpal, Aortic arch aneurysm, Micrognathia, Elev... |
ORPHA:99228 |
| Monosomy X |
|
Gonadoblastoma, Biliary cirrhosis, Short 4th metacarpal, Aortic arch aneurysm, Micrognathia, Elev... |
ORPHA:99226 |
| Turner Syndrome |
|
Gonadoblastoma, Biliary cirrhosis, Short 4th metacarpal, Aortic arch aneurysm, Micrognathia, Elev... |
ORPHA:881 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Flexion contracture, Micrognathia, Short femur, Hypertrophic cardiomyopathy, Mult... |
OMIM:616897 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased li... |
OMIM:246900 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypothyroidism, Short toe, Hypocalcemic tetany, Hyperphosphatemia, Enamel hypoplasia, Hypogonadis... |
OMIM:103580 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Recurrent fractures, Short stature, Absence of secondary sex characteristics... |
ORPHA:2235 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Elevated circulating thyroid-stimulating ... |
OMIM:612462 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Decreased response to growth hormone stimulation test, Decreased fetal move... |
OMIM:606407 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Tapered finger, Short foot, Pes cavus, Cryptorchidism, Obesity, Pes planus |
OMIM:309585 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Hypogonadism, Abnormal testis morphology, Short stature, Mitral valve prolap... |
ORPHA:2233 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... |
ORPHA:791 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
| Perrault Syndrome 1 |
|
Short stature, Pes cavus, Increased circulating gonadotropin level, Gonadal dysgenesis, Primary a... |
OMIM:233400 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline... |
ORPHA:2298 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Tachycardia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyperglycemia... |
OMIM:619737 |
| Steinert Myotonic Dystrophy |
|
Polyhydramnios, Impotence, Elevated hepatic transaminase, Secondary hyperparathyroidism, Hypercho... |
ORPHA:273 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Cognitive impairm... |
ORPHA:457059 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc... |
ORPHA:2394 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Short foot, Hypogonadism, Short stature, Toe syndactyly, Micrognathia, R... |
ORPHA:3409 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
| Mehmo Syndrome |
|
Tapered finger, External genital hypoplasia, Hypoplasia of penis, Agitation, Diabetes mellitus, G... |
ORPHA:85282 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Hypogonadism, External genital hypoplasia, Brachydactyly, Renal cyst, Syndactyly, Cr... |
OMIM:615982 |
| Glycerol Kinase Deficiency |
|
Short stature, Adrenal insufficiency, Small for gestational age, Adrenocortical hypoplasia, Hypog... |
OMIM:307030 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hypotension, Impotence, Decreased female libido, Ventricular arrhythmia... |
ORPHA:91347 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... |
OMIM:202150 |
| Fg Syndrome Type 1 |
|
Micrognathia, Small pituitary gland, Slender build, Generalized joint laxity, Atrial septal defec... |
ORPHA:93932 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin... |
OMIM:617950 |
| Perrault Syndrome 4 |
|
Cognitive impairment, Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficien... |
OMIM:615300 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Short stature, Abnormal hypothalamus morph... |
OMIM:614963 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, f... |
ORPHA:90794 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility, Repeated implantation failure, Formation of multiple pronuclei during fertili... |
OMIM:619176 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Absent or minimally ossified vertebral bodies, Tetraphoc... |
OMIM:215140 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
| Alstrom Syndrome |
|
Hypothyroidism, Chronic active hepatitis, Atherosclerosis, Elevated hepatic transaminase, Hepatic... |
OMIM:203800 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Polyhydramnios, Spinal dysraphism, Coxa valga, Flexion contracture, Micrognathia, Ep... |
ORPHA:96334 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Type II d... |
OMIM:151660 |
| Wilson-Turner Syndrome |
|
Tapered finger, Small hand, Short stature, Micrognathia, Pes cavus, Truncal obesity, Cryptorchidi... |
ORPHA:3459 |
| Squalene Synthase Deficiency |
|
Knee flexion contracture, 2-3 toe syndactyly, Decreased LDL cholesterol concentration, Slender lo... |
OMIM:618156 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Jaundice... |
OMIM:617049 |
| Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia, Cryptorchidism |
ORPHA:2022 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Increased serum pyruvate, Hepatomegaly |
OMIM:266150 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short toe, Tapered finger, Short stature, Shortening of all distal phalanges of the fingers, Shor... |
OMIM:301900 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia, Pancreatitis |
OMIM:620137 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia, Intrauterine growth retardation |
ORPHA:231147 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Short stature, Glycosuria, Elevated hepatic transaminase, Failure to thrive... |
ORPHA:2089 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Hepatic steatosis, Hyperlipidemia, Short palm, Arthrogryposis... |
ORPHA:254346 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Hypogonadism, External genital hypoplasia, Atrial septal defect, Hepat... |
OMIM:615996 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Short stature, Hyperlipidemia |
ORPHA:364 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... |
ORPHA:300373 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... |
ORPHA:556030 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hyperammonemia, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Ovarian Dysgenesis 1 |
|
Osteoporosis, Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Puberty and gonadal ... |
ORPHA:79320 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive, H... |
OMIM:602579 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hepatomegaly, Cryptorchidism, Int... |
OMIM:618958 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Polyhydramnios, Absent or minimally ossified vertebral bodies, Abnormal... |
ORPHA:1505 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochlore... |
OMIM:214700 |
| Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial ... |
OMIM:615981 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Zygotic cleavage failure |
OMIM:619011 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Elevated circulating thyroid-stimulating hormone concentration, Decreased testic... |
OMIM:241080 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Dorsocervical fat pad, Hepatic steatosis, Paradoxical increased... |
ORPHA:189427 |
| Combined Malonic And Methylmalonic Acidemia |
|
Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidemia, Failure to thrive, ... |
ORPHA:289504 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration |
OMIM:275100 |
| Pituitary Apoplexy |
|
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... |
ORPHA:95613 |
| Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Abnormality of iron homeostasis, Galactosuria, Hepatomegaly, Renal cortical micro... |
OMIM:222470 |
| 48,Xxxy Syndrome |
|
Coxa valga, Hip dislocation, Talipes equinovarus, Abnormal dental enamel morphology, Pulmonary em... |
ORPHA:96263 |
| Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Osteoporosis, Absence of pubert... |
OMIM:610628 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... |
OMIM:261680 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Increased C-peptide level, Diabetic ketoacidosis, Hypertension, Hepatic s... |
OMIM:615238 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperpituitarism, Osteolysis, Testicular neoplasm, Ovarian cyst, Fibrous dyspla... |
ORPHA:249 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Asplenia, Ambiguous genitalia, female, Abnormal cardiac septum morpholog... |
OMIM:249000 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Short stature, Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational... |
OMIM:616026 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia, ... |
OMIM:618120 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Osteopenia, Hepatomegaly, Hypoch... |
OMIM:610539 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... |
OMIM:618728 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Postnatal growth retardation |
OMIM:616111 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility, Hydatidiform mole, Recurrent spontaneous abortion |
OMIM:618432 |
| Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... |
ORPHA:1667 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Short metatarsal, Hyperactivity, Advanced ossification of carpal bones, ... |
OMIM:614613 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
| Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Hypogonadism, Clinodactyly, Obesity, Postaxial polydactyly |
OMIM:615984 |
| Cornelia De Lange Syndrome 5 |
|
Small hand, Hypogonadism, Short stature, Decreased testicular size, Toe syndactyly, Micrognathia,... |
OMIM:300882 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Polyhydramnios, Patent foramen ovale, Rhizomelia, Short ribs, Small for gestational ... |
OMIM:607143 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
OMIM:600649 |
| Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Ambiguous genitalia, Precocious puberty, Micrognathia, Epiph... |
OMIM:270400 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Short Stature, Brussels Type |
|
Short stature, Calcification of cartilage, Horseshoe kidney, Growth delay, Delayed epiphyseal oss... |
ORPHA:2867 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short 4th metacarpal, Short stature, Mitral valve prolapse, Azoospermia, Hypergonadotropic hypogo... |
ORPHA:2183 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Short stature, Joint laxity, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes melli... |
OMIM:616033 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level, Intrauterine growth retardation, Elevated cir... |
OMIM:618838 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Joubert Syndrome 26 |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism |
OMIM:616784 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Small hand, Hypogonadism, Short stature, Decreased testicular size, Joint laxity, ... |
OMIM:300354 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Broad foot, Radial de... |
OMIM:609441 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, Hypoglycemia |
ORPHA:67048 |
| Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
| Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Increased circulating T4 concentration, Elevated hepatic transaminase, Increas... |
ORPHA:525731 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... |
ORPHA:99429 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kin... |
ORPHA:42 |
| Mosaic Trisomy 16 |
|
Short femoral neck, Short forearm, Ventricular septal defect, Small for gestational age, Maternal... |
ORPHA:1708 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia, Hypoglycemia, Fever, Recurrent fever |
OMIM:201910 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Short stature, Hypoplasia of penis, Hernia of the abdominal wall, Aplasia/Hypoplasia of the teste... |
ORPHA:3055 |
| Polyembryoma |
|
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... |
ORPHA:180229 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Hypothalamic hamartoma, Premature thelarche, Prenatal maternal abno... |
ORPHA:759 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility, Repeated implantation failure |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Zygotic cleavage failure |
OMIM:619009 |
| Ovarian Dysgenesis 4 |
|
Decreased body weight, Decreased serum estradiol, Short stature, Primary amenorrhea, Elevated cir... |
OMIM:616185 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Hypogonadism, Short stature, Decreased testicular size, Type II diabetes mel... |
ORPHA:2234 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Wide penis, Dilatation of renal calices, Reduced sub... |
ORPHA:3455 |
| Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Broad foot, Hypotension, Micrognathia, Broad hallux, Postnatal growth re... |
ORPHA:439822 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility, Abnormal preimplantation embryonic development |
OMIM:619697 |
| Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Long toe, Osteopenia, Arachnodactyly, Long fingers, Fa... |
OMIM:619489 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating follicle-stimulating hormone concentratio... |
OMIM:616950 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Cognitive impairment, Short stature, Polyphagia, Attention deficit... |
ORPHA:369873 |
| Galactosemia |
|
Primary amenorrhea, Decreased fertility, Cirrhosis, Hepatic failure, Hypergalactosemia, Increased... |
ORPHA:352 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
| Congenital Isolated Acth Deficiency |
|
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorti... |
ORPHA:199296 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Short foot, Small hand, Micrognathia, Clinodactyly, Abnormal heart morphology... |
ORPHA:254525 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Myocardial infarction, Premature coronary artery atherosclerosis... |
OMIM:608320 |
| Kallmann Syndrome |
|
Primary amenorrhea, Decreased fertility, Reduced bone mineral density, Recurrent fractures, Anter... |
ORPHA:478 |
| Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight, Sho... |
OMIM:618347 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Sparse bone trabeculae, Hypophosphatemic rickets, Low-molecular-weight proteinu... |
OMIM:300554 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, Abnormal circulating arginine concentration, Abnorm... |
ORPHA:79096 |
| Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Inguinal hernia, Elevated circulating luteinizing hormone level, Blind vagina,... |
OMIM:300068 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
| Lead Poisoning |
|
Decreased female libido, Decreased circulating osteocalcin level, Oligospermia, Cranial hyperosto... |
ORPHA:330015 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Increased susceptibility to fractures, Increased circulating prolactin ... |
ORPHA:54595 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Atherosclerosis, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Primary amenorrhea... |
ORPHA:79083 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Short stature, Delayed puberty, Hypospadias, Preaxial polydactyly, Hypogonadotropic... |
ORPHA:141333 |
| Classic Galactosemia |
|
Primary amenorrhea, Decreased fertility in females, Hepatic failure, Secondary amenorrhea, Premat... |
ORPHA:79239 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Polydactyly, Precocious puberty, Increased C-peptide level, Reduced subcutaneous ... |
ORPHA:769 |
| Carpenter Syndrome 1 |
|
Precocious puberty, Coxa valga, Lateral displacement of patellae, Toe syndactyly, Micrognathia, F... |
OMIM:201000 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
| Robinow Syndrome |
|
Micrognathia, Hypoplastic labia majora, Mesomelic arm shortening, Multicystic kidney dysplasia, V... |
ORPHA:97360 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Advanced ossification of carpal bones, Short stature, Overgrowth, Polycys... |
OMIM:616831 |
| MĆ¼llerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Increased serum testosterone level, Short stature, Abnormality of the ovary, ... |
ORPHA:247768 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Thyr... |
OMIM:218700 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Thin bony cortex, Metaphyseal irregularity, Delayed epiphyseal ossificat... |
OMIM:241530 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased plasma carnitine |
ORPHA:79159 |
| 47,Xyy Syndrome |
|
Macroorchidism, Hyperactivity, Increased serum testosterone level, Azoospermia, Increased circula... |
ORPHA:8 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity, Hypoalbuminemia |
ORPHA:88643 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary... |
OMIM:617690 |
| Isolated Sedoheptulokinase Deficiency |
|
Anemia, Flexion contracture, Renal insufficiency, Short stature, Hepatitis, Hypochromic microcyti... |
ORPHA:440713 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
| Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Short stature, Type II diabetes mellitus, Hypoplasia of penis, Hand polydactyl... |
ORPHA:2377 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Non-Acquired Panhypopituitarism |
|
Hypotension, Hypoglycemia, Pituitary dwarfism, Ectopic anterior pituitary gland, Delayed puberty,... |
ORPHA:90695 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hyperhidrosis, Hypoglycemia, Hypothermia |
OMIM:245400 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Hyperactivity, Patent foramen ovale, Short stature, Small for gestational age, Mi... |
OMIM:610883 |
| Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Diabetes insipidus, Short stature, Ectopic posterior pituitary, Failure to thrive... |
ORPHA:95496 |
| Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Sclerosis of f... |
ORPHA:564003 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Small hand, Myelomeningocele, Microphallus... |
ORPHA:94065 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, ... |
ORPHA:264580 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Small for gestational age, Failure to thrive, Hypoglycemia, Hyperammonemia, Intr... |
OMIM:614702 |
| Spontaneous Periodic Hypothermia |
|
Hyperhidrosis, Hypothermia |
ORPHA:29822 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Gonadoblastoma, Polyhydramnios, Neonatal hypoglycemia, Elevated circulating alpha... |
ORPHA:116 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Limb ... |
OMIM:210710 |
| Huntington Disease |
|
Memory impairment, Weight loss, Abnormal circulating cholesterol concentration, Choking episodes,... |
ORPHA:399 |
| Silver-Russell Syndrome |
|
Precocious puberty, Abnormality of the calcaneus, Micrognathia, Cachexia, Postnatal growth retard... |
ORPHA:813 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Jaundice, Hyper... |
OMIM:617156 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Cirrhosis, Telangiectasia, Impotence, Glucose intolerance, Azoospermia, Hepatocellu... |
OMIM:235200 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Intrauterine growth retardation, Camptodactyly, Failure to thrive, Cholestasis, H... |
OMIM:608104 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
2-3 toe syndactyly, Short toe, Flexion contracture of digit, Patellar hypoplasia, Hypogonadism, H... |
ORPHA:3041 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility, Hydatidiform mole |
OMIM:618431 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Abnormality of thyroid physiology |
OMIM:615542 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... |
OMIM:618805 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Hyperglycemia, Stage 5 chronic kidney disease, Decreased a... |
OMIM:608612 |
| Glucocorticoid Deficiency 1 |
|
Abnormal response to ACTH stimulation test, Increased circulating ACTH level, Decreased circulati... |
OMIM:202200 |
| Laron Syndrome |
|
Severe short stature, Delayed puberty, Hypoglycemia, Truncal obesity, Hypercholesterolemia, Abnor... |
ORPHA:633 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Joint hyperflexibility, Hypogonadism |
ORPHA:1875 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
| Hawkinsinuria |
|
Hypothyroidism |
ORPHA:2118 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Abnormal pelvic girdle bone... |
ORPHA:1802 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Infantile Liver Failure Syndrome 2 |
|
Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Acute hepatic failure |
OMIM:616483 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Sparse bone trabeculae, Secondary hyperparathyroidism, Fibular bowing, Delayed ... |
OMIM:264700 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
| Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Hyponatremia, Adrenal hypoplasia |
OMIM:240200 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Type I diabetes mellitus, Eunuchoid habitus, Breast aplasia, Elevated ... |
ORPHA:3044 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Polydactyly, Hypoglycemia, Pituitary dwarfism, Ectopic anterior pituitary gland, Del... |
ORPHA:95494 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Hyperinsulinemia, Insulin resistance, Hypoglycemia |
ORPHA:230 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Impaired glucose toleranc... |
OMIM:248370 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Wrist flexion contracture, Flexion contracture, Small hand, Micrognathia, Male hy... |
OMIM:300055 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyroidism |
OMIM:614450 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
| Acth Deficiency, Isolated |
|
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia, Adrenocorticot... |
OMIM:201400 |
| Dent Disease 1 |
|
Thin bony cortex, Aminoaciduria, Hyperphosphaturia, Sparse bone trabeculae, Low-molecular-weight ... |
OMIM:300009 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618835 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Polydactyly, Hyperglycemia, Postaxial foot polydactyly, Brachydactyly, Sy... |
OMIM:615986 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618839 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... |
OMIM:610755 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardation |
ORPHA:231137 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Metaphyseal irregularity, Thin bony cortex, Recurrent fractures, Bulging epiph... |
OMIM:277440 |
| Bamforth-Lazarus Syndrome |
|
Congenital hypothyroidism, Thyroid agenesis |
ORPHA:1226 |
| Frasier Syndrome |
|
Gonadoblastoma, Renal insufficiency, Decreased serum estradiol, Nephrotic syndrome, Ambiguous gen... |
ORPHA:347 |
| Hyperparathyroidism, Transient Neonatal |
|
Polyhydramnios, Recurrent fractures, Short long bone, Short ribs, Enlarged kidney, Splenic cyst, ... |
OMIM:618188 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Decreased liver function, In... |
OMIM:617093 |
| Gangliocytoma |
|
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Dementia, ... |
ORPHA:251937 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
| Athyreosis |
|
Hypothyroidism, Thyroid agenesis |
ORPHA:95713 |
| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Abnormal cortical bone morphology, Hypertension, Osteopoikilosis, Complete dupl... |
ORPHA:1879 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short toe, Broad foot, Tapered finger, Hypogonadism, Short stature, Decreased testicular size, Ca... |
ORPHA:127 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Short stature, Elevated hepatic transaminase, Hypopituitarism, Hepatosplenomegaly... |
OMIM:619013 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hyperhidrosis, Hyperactivity, Short foot, Hypogonadism, Small hand, Decr... |
ORPHA:85293 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Polydactyly, Hepatic fibrosis, Hypogonadism, Stage 5 chronic kidney... |
OMIM:616629 |
| Perrault Syndrome 3 |
|
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... |
OMIM:614129 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... |
ORPHA:363400 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, ... |
ORPHA:361 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hepatic failure, Decreased body weight, Wide anterior fontanel, Sh... |
OMIM:614886 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism |
OMIM:618625 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:600546 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypercalc... |
OMIM:614732 |
| Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Deeah Syndrome |
|
Polyhydramnios, Decreased body weight, Neonatal hypoglycemia, Hepatomegaly, Dysphagia, Thrombocyt... |
OMIM:619004 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Short stature, Hypoglycemia, Hypogonadotropic hypogonadism, Intrauterine... |
ORPHA:48431 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Short stature, Hepatocel... |
ORPHA:79240 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Micrognathia, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1, ... |
ORPHA:140941 |
| Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Hypoplasia of the radius, Abnormal trabecular bone morp... |
ORPHA:75508 |
| Chung-Jansen Syndrome |
|
Tapered finger, Hip dysplasia, Meconium stained amniotic fluid, Micrognathia, Clinodactyly of the... |
OMIM:617991 |
| Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Increased c... |
OMIM:131100 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
| Osteogenesis Imperfecta, Type Xxii |
|
Abnormal circulating calcium concentration, Dentinogenesis imperfecta, Thin bony cortex, Pseudoar... |
OMIM:619795 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ... |
ORPHA:3143 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short stature, Hypoplasia of the ulna, Short femur, Aplasia/Hypoplasia... |
OMIM:612447 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hypoglycemia, Hyperammonemia, Hepatom... |
OMIM:251000 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... |
OMIM:613038 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Hyperactivity, Precocious puberty, Hernia, Ventricular septal defect, Hypogon... |
ORPHA:3306 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Neonatal hypoglycemia, Failure to thrive, Increased serum pyruvate, Hyperproline... |
OMIM:619046 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Cognitive impairment, Hypogonadism, Stage 5 chronic kidney disease, Mesoaxial polyda... |
OMIM:615994 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Mirage Syndrome |
|
Decreased body weight, Adrenal insufficiency, Hypoglycemia, Hyponatremia, Thrombocytopenia, Rocke... |
OMIM:617053 |
| Alstrƶm Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Oligospermia, Dorsocervical... |
ORPHA:64 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Epiphyseal stippling, Mild postnatal growth retardation, Hypoplastic ver... |
OMIM:101800 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Failure to thrive, Hypotriglyceridemia, Growth delay, Hy... |
OMIM:246700 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Decreased circulating cortisol level, Increased circulating ACTH level,... |
ORPHA:90790 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Spina bifida occulta, Hyperexte... |
OMIM:151050 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Osteopenia, Menorrhagia, Oligomenorrh... |
ORPHA:397685 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
| Thyroid Lymphoma |
|
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter |
ORPHA:97285 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Situs inversus totalis, Obesity, Postaxial polydactyly |
OMIM:615985 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary,... |
OMIM:612885 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... |
OMIM:610475 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Toe syndactyly, Pes cavus, Obesity, Pes planus |
ORPHA:217377 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Atelosteogenesis, Type I |
|
Polyhydramnios, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb unde... |
OMIM:108720 |
| Preeclampsia |
|
Increased body mass index, Small for gestational age, Acute kidney injury, Elevated systolic bloo... |
ORPHA:275555 |
| Propionic Acidemia |
|
Hyperglycinemia, Short stature, Failure to thrive, Hypoglycemia, Hyperammonemia, Hepatomegaly, Pa... |
OMIM:606054 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Congenital Hypothyroidism |
|
Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Hypothermia, Abnormality of the thyroid g... |
ORPHA:442 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... |
OMIM:201450 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Hypospadias, Hyperglycemia,... |
OMIM:175700 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypothyroidism, Hypertriglyceridemia, Precocious puberty, Short stature, To... |
ORPHA:819 |
| Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic tra... |
ORPHA:370 |
| Bardet-Biedl Syndrome 1 |
|
Broad foot, Biliary tract abnormality, Radial deviation of finger, Truncal obesity, Postaxial han... |
OMIM:209900 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Breast aplasia, Postaxial hand polydactyly, Absent hand, Decreased ferti... |
ORPHA:3138 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Increased circulating prolactin concentration, Precocious puberty, Decreased respons... |
ORPHA:91354 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Ck Syndrome |
|
Hyperactivity, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig... |
OMIM:300831 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:212138 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Multicystic kidney dysplasia, Finger syndactyly, Hypogonadism, Short stature, N... |
ORPHA:110 |
| 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 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Craniosynostosis, Micrognathia, Radioulnar synostosis, Hypospadias, Renal hypopla... |
ORPHA:171839 |
| Maple Syrup Urine Disease |
|
Elevated plasma branched chain amino acids, Pancreatitis, Hypoglycemia, Elevated circulating L-al... |
OMIM:248600 |
| Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Overlapping toe, Bilateral talipes equinovarus, Patent foramen ovale, External geni... |
ORPHA:177907 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperammonemia, Growth delay, Hyp... |
OMIM:615453 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228305 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Diabetes mellitus, Abnormality of the thyroid gland, Hypercholesterolemia, Abnorm... |
ORPHA:77296 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Cellulitis, Atherosclerosis, Pancreatitis, Insulin resistance, Congestive h... |
ORPHA:2348 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
| Prolactinoma |
|
Hypotension, Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormo... |
ORPHA:2965 |
| Gordon Holmes Syndrome |
|
Primary amenorrhea, Secondary amenorrhea, Dementia, Absence of pubertal development, Oligomenorrh... |
OMIM:212840 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Sparse bone trabeculae, Secondary hyperparathyroidism, Postnatal growth retarda... |
ORPHA:289157 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... |
ORPHA:2457 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... |
OMIM:616000 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Polyhydramnios, Micrognathia, Fetal distress, Hydrocele testis, Hypertrophic cardiomyopathy, Hepa... |
OMIM:618810 |
| Roifman Syndrome |
|
Short toe, Hip contracture, Short stature, Delayed proximal femoral epiphyseal ossification, Clin... |
ORPHA:353298 |
| Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hypoglycemia, Cryptorchidism, Hypertriglycer... |
OMIM:617575 |
| African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
| Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
| Pituitary Gigantism |
|
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Left ven... |
ORPHA:99725 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Chondrocalcinosis, Short stature, Small for... |
OMIM:601678 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
| Addison Disease |
|
Hypotension, Decreased circulating aldosterone level, Decreased female libido, Decreased circulat... |
ORPHA:85138 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
| Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... |
OMIM:618187 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
| Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Short stature, Increased bone mineral density, Abnormal cortical... |
ORPHA:2204 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Pes cavus, Urinary urgency, Decreased serum testosterone concentration |
OMIM:609195 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Failure to thrive, Acute hyperammonemia |
OMIM:210200 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Splenomegaly, Arthritis, Infertility, Azoospermia, Congestive heart failure, Dilated c... |
OMIM:602390 |
| Short Syndrome |
|
Birth length less than 3rd percentile, Insulin resistance, Inguinal hernia, Lipodystrophy, Insuli... |
OMIM:269880 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
| Stuve-Wiedemann Syndrome 1 |
|
Short phalanx of finger, Short tibia, Metaphyseal rarefaction, Elbow flexion contracture, Microgn... |
OMIM:601559 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Bre... |
OMIM:615363 |
| Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... |
ORPHA:1646 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Hypertriglyceridemia, Hepatocellular carcinoma, Elevated ... |
ORPHA:247585 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Increased bone min... |
ORPHA:3152 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Delayed epiphyseal ossification, Recurrent fractures,... |
OMIM:600081 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Abnormal metaphysis morphology, Osteopetrosis, Cranial hyperostos... |
ORPHA:2658 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Hypoplastic vertebral bodies, Short toe, Absent/hypoplastic paranasal si... |
ORPHA:280651 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Ambiguous genitalia, Encephalocele, Rhizomelia, Short long bone, Short ribs, Flat ac... |
OMIM:616300 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitu... |
OMIM:609069 |
| Werner Syndrome |
|
Abnormal testis morphology, Increased bone mineral density, Atherosclerosis, Pulmonary artery ste... |
ORPHA:902 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Hypocholester... |
OMIM:620058 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Small for gestational... |
OMIM:609015 |
| Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
| Satoyoshi Syndrome |
|
Genu varum, Abnormality of the knee, Tapered finger, Short stature, Abnormality of the humerus, A... |
ORPHA:3130 |
| Stiff Person Spectrum Disorder |
|
Hypothyroidism, Diabetes mellitus, Hyperhidrosis |
ORPHA:3198 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct prolif... |
OMIM:618329 |
| Autoinflammation With Infantile Enterocolitis |
|
Short stature, Failure to thrive, Increased circulating ferritin concentration, Elevated circulat... |
OMIM:616050 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
| Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Reduced subcutaneous adipose tissue, Micrognathia,... |
OMIM:264090 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Hepatitis, Elevated h... |
OMIM:614921 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Hepatitis, Decreased circulating ACTH level, Decreased circulating co... |
ORPHA:199299 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Delayed epiphyseal os... |
ORPHA:750 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, External genital hypoplasia, Toe syndactyly, Preaxia... |
ORPHA:65759 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Flexion contracture, Elevated hepatic transaminase, Short femur, Hepatic steatosis, ... |
ORPHA:17 |
| Septo-Optic Dysplasia Spectrum |
|
Diabetes insipidus, Hypohidrosis, Anterior pituitary hypoplasia, Short stature, Maternal diabetes... |
ORPHA:3157 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Hip dysplasia, Hypoplasia of penis, Clinodactyly of the 5th finger,... |
ORPHA:228402 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Reactive hypoglycemia, Primary amenorrhea, Hypogonadotropic... |
OMIM:600955 |
| Glycogen Storage Disease Ia |
|
Hyperuricemia, Short stature, Elevated hepatic transaminase, Hepatocellular carcinoma, Delayed pu... |
OMIM:232200 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Failure to thrive, Disproportionate short-limb sho... |
OMIM:600121 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Narrow pelvis bone, Truncal obesity, Limited elbow extension, Pseudoepiphyses... |
OMIM:210720 |
| H Syndrome |
|
Facial telangiectasia, Hallux valgus, Camptodactyly, Hepatosplenomegaly, Osteolysis, Recurrent fr... |
ORPHA:168569 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Short stature, Decreased circulating ceruloplasmin concentration, Elevated hepatic tra... |
OMIM:242150 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
| Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, ... |
ORPHA:672 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Abnormality of the ankle, Genu valgum, Obesity, Finger joint hypermobility |
ORPHA:436141 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Micrognathia, Broad hallux, Slender finger, Bilateral talipes equinovarus, Talipes equinovarus, P... |
ORPHA:251028 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Decreased body weight, Small for gestational age, Dorsocervical fat pad, Diabetes... |
ORPHA:391408 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Short stature, E... |
ORPHA:79445 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
| Perlman Syndrome |
|
Hyperinsulinemia, Micrognathia, Hypoplasia of penis, Inguinal hernia, Hepatomegaly, Cryptorchidis... |
ORPHA:2849 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Cirrhosis, Autoimmunity, Insulin resi... |
ORPHA:79086 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Secondary amenorrhea, Lower limb undergrowth, Bowing of the legs, Brachydactyly, P... |
OMIM:612847 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Subvalvular aortic stenosis, Flexion contracture, Tapered finger, Ischemic strok... |
OMIM:619503 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperhidrosis, Hyperactivity, Weight loss, Congestive heart failure, Increased circulating free T... |
OMIM:275000 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism |
ORPHA:2349 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hepatic failure, Hyperalaninemia, Elevated hepatic transaminase, Elevated circulating tetradecano... |
OMIM:619355 |
| Gracile Bone Dysplasia |
|
Asplenia, Short stature, Slender long bone, Flared metaphysis, Decreased skull ossification, Brac... |
OMIM:602361 |
| Endosteal Hyperostosis, Worth Type |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology, Joint stiffness,... |
ORPHA:1078 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Neonatal hypoglycemia, Elevated circulating creatine kinase concentrat... |
OMIM:619055 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Short foot, Small hand, Clinodactyly, Obesity |
OMIM:300577 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Decreased plasma carnitine, Nonketotic hypoglycemia... |
OMIM:201475 |
| Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... |
ORPHA:3344 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Primary amenorrhea, Short stature, Reduced subcutaneous adipose tissue, Insulin resistance, Hepat... |
OMIM:612526 |
| Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Short long bone, Small for gestational age, Short finger, Ulnar dev... |
OMIM:222600 |
| Hyperostosis Corticalis Generalisata |
|
Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal thickening, Generalized osteo... |
ORPHA:3416 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Abnormal circulating lipid concentration, Pes cavus, Limb undergrowth, Insulin re... |
OMIM:616541 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Attention deficit... |
ORPHA:3000 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Maternal virilization in pregnancy, Broad foot, Ambiguous genitalia, Vesicovaginal fistula, Humer... |
OMIM:201750 |
| Proteus Syndrome |
|
Multiple lipomas, Thin bony cortex, Hypertrophy of skin of soles, Facial hyperostosis, Mandibular... |
OMIM:176920 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip d... |
OMIM:614851 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Short stature, Areflexia of lower limbs, Premature ovarian insufficiency, Pes cavus, Split hand, ... |
OMIM:618124 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Hypokalemia, Increased circulating ACTH level, Pituitary adenoma, Hyp... |
OMIM:219090 |
| Narcolepsy Type 1 |
|
Obesity, Transient global amnesia, Syncope |
ORPHA:2073 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
| Primary Lipodystrophy |
|
Cirrhosis, Type IV atherosclerotic lesion, Type II diabetes mellitus, Pancreatitis, Insulin resis... |
ORPHA:90970 |
| Laron Syndrome |
|
Short long bone, Severe short stature, Decreased serum insulin-like growth factor 1, Limb undergr... |
OMIM:262500 |
| Cushing Disease |
|
Pedal edema, Pituitary corticotropic cell adenoma, Capillary fragility, Decreased eosinophil coun... |
ORPHA:96253 |
| Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Weight loss, Increased circulating ... |
ORPHA:1501 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, Decreased plasma carnitine, Hypoglycemia, Hyperammonemia, Hepatomegaly |
OMIM:246450 |
| Restrictive Dermopathy 1 |
|
Polyhydramnios, Flexion contracture, Micrognathia, Ankylosis, Rocker bottom foot, Short umbilical... |
OMIM:275210 |
| Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Limited elbow flexion, Short 1st metacarpal, Micro... |
OMIM:164745 |
| Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia |
OMIM:601005 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Short stature, Premature ovarian insufficiency, Ulnar deviation of finge... |
ORPHA:2928 |
| Fanconi Anemia |
|
Abnormal testis morphology, Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Hip... |
ORPHA:84 |
| Trisomy 5P |
|
Obesity, Hypoplasia of penis, Abnormal metacarpal morphology, Short stature |
ORPHA:1742 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism |
ORPHA:96183 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
| Pendred Syndrome |
|
Goiter, Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma |
ORPHA:705 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pedal edema, Pituitary corticotropic cell adenoma, Capillary frag... |
ORPHA:99889 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic ste... |
ORPHA:348 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hypertension, Miscarriage, Hepatic steatosis, Lipodystrophy, Insulin-resistan... |
OMIM:613877 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Abnormality of the liver, Hyperhomocystinemia, Elevated hepatic transaminase,... |
ORPHA:88618 |
| Myotonic Dystrophy 2 |
|
Right bundle branch block, Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, Elevat... |
OMIM:602668 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Growth dela... |
OMIM:231530 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Cognitive impairment, Short metacarpal, Short stature, Pseudohypoparathyroidis... |
OMIM:612463 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
| Kennedy Disease |
|
Decreased fertility, Abnormal circulating lipid concentration, Type II diabetes mellitus, Erectil... |
ORPHA:481 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Hallux valgus, Multiple joint contractures, Toe syndactyly, Ventricular septal defec... |
ORPHA:464306 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Malignant hyperthermia |
ORPHA:352530 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... |
OMIM:278850 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Coxa valga, Pubertal developmental failure in females, Left ventricular ... |
ORPHA:740 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Hyperbil... |
ORPHA:64743 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Hyperammonemia, Intrauterine growth retardation |
OMIM:618253 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Genu valgum, Advanced ossification of carpal bones, Coxa valga, Short femoral ... |
OMIM:618363 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of... |
ORPHA:2635 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Obesity, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
| Restrictive Dermopathy |
|
Camptodactyly of finger, Polyhydramnios, Ascending tubular aorta aneurysm, Multiple joint contrac... |
ORPHA:1662 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperuricemia, Short stature, Hepatocellular carcinoma, Elevated hepatic transamina... |
OMIM:232220 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Small for gestational age, Hypoproteinemia, Growth delay, Hyperlipidemia, Hypoalb... |
OMIM:256300 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Aortic arch aneurysm, Abnormal cardiac septum morphology... |
ORPHA:1606 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Patellar hypoplasia, Abnormality of the endocrine system, Brachydactyly, P... |
ORPHA:464288 |
| Angelman Syndrome |
|
Precocious puberty in females, Hyperactivity, Pes valgus, Polyphagia, Dysphagia, Obesity, Delayed... |
ORPHA:72 |
| Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Ventricular septal defect, Small for gestational age, Large for gestational age, ... |
ORPHA:254534 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Cirrhosis, Hepatic failure, Flexion contracture, Elevated hepatic transaminase, Hepatosplenomegal... |
ORPHA:367 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Hepatocellular carcinoma, Elevated hepatic transa... |
OMIM:276700 |
| Hepatocellular Carcinoma |
|
Abnormality of the liver, Weight loss, Liver abscess, Hepatic necrosis, Jaundice, Type II diabete... |
ORPHA:88673 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Coxa valga, Micrognathia, Large for gestational age, Limitation of joint mobility... |
ORPHA:254519 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Patellar hypoplasia, Encephalocele, ... |
OMIM:603671 |
| 8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Short femur, Spina bifida oc... |
ORPHA:508488 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Slender long bone, Hydrocele testis, Congenital adrenal hyper... |
ORPHA:96181 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
| Insulin-Like Growth Factor I, Resistance To |
|
Decreased body weight, Reduced subcutaneous adipose tissue, Micrognathia, Radial deviation of fin... |
OMIM:270450 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hepatic steatosis, Glucose intolerance, Abdominal aortic aneurysm, Eleva... |
OMIM:617253 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperhidrosis, Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the a... |
ORPHA:970 |
| Acromelic Frontonasal Dysplasia |
|
Meningocele, Aplasia/Hypoplasia of the tibia, Anterior pituitary hypoplasia, Patellar hypoplasia,... |
ORPHA:1827 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation t... |
ORPHA:293978 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Wrist flexion contracture, Flexion contracture, Hydronephrosis, Camptodactyly, Jo... |
ORPHA:254528 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Hyponatremia, Adrenal insufficiency,... |
OMIM:300200 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Short finger, Inguinal hernia, Broad thumb, Postaxial hand polydactyly, Obesity |
OMIM:300209 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism |
OMIM:619851 |
| 8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Tapered finger, Abnormal cardiac septum morphology, Micrognathia, ... |
ORPHA:251071 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency, Obesity |
OMIM:615991 |
| Silver-Russell Syndrome 2 |
|
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia |
OMIM:618905 |
| Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Obesity, Brachydactyly |
OMIM:615995 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Hypothyroidism |
ORPHA:752 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hyperlipidemia, Hyperc... |
ORPHA:79259 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Arachnodactyly, Ankle clonus, Cognitive impairment, Hypogonadism, Type II diabete... |
ORPHA:412057 |
| Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Short toe, Myeloid leukemia, Tricuspid regurgitation, Neuroendocrine neopla... |
ORPHA:404443 |
| Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
| Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Small hand, Short stature, Infertility, Clinodactyly, Azoospermia, Syndactyly... |
ORPHA:1445 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Nonketotic hypoglyc... |
ORPHA:99901 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Bifid distal phalanx of the thumb, Limited elbow extension, Short stature, Cutaneous finger synda... |
OMIM:618419 |
| Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Short stature, Pe... |
OMIM:600705 |
| Glutaric Acidemia I |
|
Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration, Hepatomegaly |
OMIM:231670 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Short femur, Joint hypermobility, Overgrowth, Growth dela... |
OMIM:617798 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Genu valgum, Tapered finger, Short stature, Obesity, Joint laxity, Tall stature, ... |
OMIM:300431 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... |
OMIM:619598 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hip subluxation, Patent foramen ovale, Anterior pituitary hypoplasia, Elevated circulating thyroi... |
OMIM:613457 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypothyroidism, Short stature, Small for gestational age, Delayed puberty, Recurrent hypoglycemia... |
OMIM:616817 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Trisomy 18P |
|
Abnormal finger morphology, Short stature, Abnormal foot morphology, Micrognathia, Bilateral cryp... |
ORPHA:1715 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| LĆ©ri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, Broad foot, Tapered finger, Micrognathia, Slender finger, Patent foramen ovale, D... |
OMIM:619841 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Short stature, Syndactyly |
OMIM:300484 |
| Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
| Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Pes cavus, Radial deviation of f... |
OMIM:277590 |
| Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Dorsocervical fat pad, Ol... |
ORPHA:1359 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Failure to thrive,... |
OMIM:267700 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Short stature |
ORPHA:436174 |
| Culler-Jones Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Short stature, Hypopituitarism, ... |
OMIM:615849 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Absent gallbladder, Hypoplastic pubic bone, Wide anterior fontanel, Short long bone,... |
OMIM:617925 |
| Brachyolmia Type 1, Hobaek Type |
|
Short femoral neck, Short long bone, Short iliac bones, Flat acetabular roof, Sclerotic foci of m... |
OMIM:271530 |
| Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Hip dysplasia, Camptodactyly, Failure to thrive, Congenital diaphra... |
ORPHA:412035 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
| Carcinoma Of Esophagus |
|
Lymphadenopathy, Obesity, Weight loss, Dysphagia |
ORPHA:70482 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Thyroiditis, Delayed puberty, Decreased serum insulin-like growth factor 1, Postna... |
OMIM:618985 |
| Cystinosis |
|
Hypothyroidism, Type I diabetes mellitus, Delayed puberty, Fever, Nephrogenic diabetes insipidus |
ORPHA:213 |
| Microtriplication 11Q24.1 |
|
Genu valgum, Short foot, Small hand, Short stature, Clinodactyly of the 5th finger, Limitation of... |
ORPHA:289522 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism |
OMIM:613970 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Disproportionate shortening o... |
OMIM:619217 |
| Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Psychomotor deterioration, Decreased circulati... |
ORPHA:435934 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Knee flexion contracture, Elevated circulating alanine aminotransferas... |
OMIM:608836 |
| Williams Syndrome |
|
Sudden cardiac death, Hypothyroidism, Abnormal circulating lipid concentration, Precocious pubert... |
ORPHA:904 |
| Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Hypothermia, Fasting hypoglycemia |
ORPHA:159 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Abnormal circulating lipid concentration, Short stature, Type II dia... |
ORPHA:3191 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreati... |
OMIM:260370 |
| Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Testicular semi... |
OMIM:180860 |
| Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Hypertension, Elevated circulating ... |
OMIM:615980 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... |
OMIM:619418 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hypogonadism, Cryptorchidism |
OMIM:601794 |
| Leishmaniasis |
|
Weight loss, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypoalbuminemia |
ORPHA:507 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Splenomegaly, Weight loss, Hepatosplenomegaly |
OMIM:209950 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Short stature, Hypoplasia of the radius, Carpal ... |
OMIM:112910 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Preaxial hand polydactyly, Decreased response to growth hormone stimulation test,... |
ORPHA:96179 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Dilated cardiomyopathy, Polycystic o... |
ORPHA:2229 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Pineal cyst, Broad hallux, Dysphagia, Genu valgum, Short 4th toe, Me... |
OMIM:615873 |
| Dystonia 28 |
|
Hypothyroidism, Precocious puberty |
ORPHA:589618 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Impotence, Arthritis, Elevated transferrin saturation, Elevated hepatic transa... |
OMIM:604250 |
| Dubowitz Syndrome |
|
Hyperactivity, Short stature, Micrognathia, Clinodactyly of the 5th finger, Acute lymphoblastic l... |
OMIM:223370 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Hypothyroidism, Decreased circulating aldosterone level, Adrenal insufficien... |
OMIM:240300 |
| Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Short stature, Micrognathia, Hypoplastic labia majora, Clinodactyly of... |
OMIM:244450 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Short long bone, Cryptorchidism, Brachydactyly, Nephrocalcinosis, Obesity, Postax... |
OMIM:615633 |
| Rudiger Syndrome |
|
Ureterovesical stenosis, Flexion contracture, Bicornuate uterus, Death in infancy, Short digit, I... |
OMIM:268650 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Isosexual precocious puberty, Increased susceptibility to fractures, Short s... |
ORPHA:2788 |
| Grant Syndrome |
|
Short stature, Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa,... |
ORPHA:2097 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Obesity, Clinodactyly of the 5th toe |
ORPHA:99976 |
| Acrodysostosis |
|
Irregular menstruation, Short toe, Abnormality of female external genitalia, Hypogonadism, Short ... |
ORPHA:950 |
| Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism |
OMIM:617713 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Genu valgum, Tapered finger, Obesity, Joint laxity, Tall stature, Short palm, Gen... |
OMIM:300602 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Polyhydramnios, Biliary cirrhosis, Atrioventricular canal de... |
OMIM:619534 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Elevated ci... |
OMIM:608779 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
| African Trypanosomiasis |
|
Impotence, Abnormality of circulating cortisol level, Hepatosplenomegaly, Pericarditis, Abnormal ... |
ORPHA:3385 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating ala... |
OMIM:256810 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, 2-3 toe syndactyly, Tapered finger, Small hand, Short stature, Congenital diaphra... |
ORPHA:284180 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Short stature, Enlarged kidney, Anhidrosis, Membranoproliferative glomerulon... |
ORPHA:251004 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Catel-Manzke Syndrome |
|
Micrognathia, Camptodactyly, Short femur, Hyperphalangy of the 2nd finger, Ulnar deviation of the... |
OMIM:616145 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Wide anterior fontanel, Hypoplastic ilia, Micromelia, Atrial septal defect, Short... |
ORPHA:1860 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Short stature... |
ORPHA:96180 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypoplastic iliac wing, Anemia, Precocious puberty, Abnormality of female external genitalia, Cox... |
ORPHA:2637 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
| Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Stiff elbow, Imperforate... |
OMIM:181450 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... |
ORPHA:508 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Short foot, Small hand, Micrognathia, Clinodactyly of the 5th finger, Attention deficit hyperacti... |
ORPHA:444002 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Short stature, Failure to thrive, Delayed puberty, Decre... |
OMIM:616834 |
| 7Q11.23 Microduplication Syndrome |
|
Micrognathia, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Cryptorchidism, A... |
ORPHA:96121 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating aldosterone level, Weight loss, Increased circulating ACTH l... |
ORPHA:95409 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Large for gestational age, Hypoglycemia, Cryptorchidism, Umbilical hernia |
OMIM:616638 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Micrognathia, Joint hypermobility, Lipoma, Prominent protruding coccyx, Obesity, Postnatal growth... |
ORPHA:480907 |
| Dent Disease |
|
Thin bony cortex, Aminoaciduria, Non-acidotic proximal tubulopathy, Hyperphosphaturia, Sparse bon... |
ORPHA:1652 |
| Joubert Syndrome 37 |
|
Short stature, Decreased testicular size, Joint hypermobility, Hepatomegaly, Cryptorchidism, Obes... |
OMIM:619185 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Chondrocalcinosis, Short stature, Small for... |
OMIM:241200 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Short long bone, Small pituitary gland, Hypospadias, Disproportionate short-... |
OMIM:619479 |
| Pyle Disease |
|
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Limited elb... |
OMIM:265900 |
| Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Small for gestational age, Hypokalemia, Increased circulating renin level, Fa... |
ORPHA:89938 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... |
ORPHA:457083 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... |
OMIM:313200 |
| Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Talipes equinovarus, Obesity, Hip dislocation, Short stature |
OMIM:616756 |
| 19P13.3 Microduplication Syndrome |
|
Hip subluxation, Pulmonary arterial hypertension, Hyperactivity, Precocious puberty, Ventricular ... |
ORPHA:447980 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Hypothyroidism, Abnormal trabecular bone morphology, Metaphyseal striati... |
ORPHA:221008 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... |
ORPHA:26791 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Flexion contracture, Wide anterior fontanel, Periportal fibrosis, Short long bone... |
OMIM:263210 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Short stature, Adrenal ins... |
OMIM:609981 |
| Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:2994 |
| Wagr Syndrome |
|
Ambiguous genitalia, Short stature, Micrognathia, Cryptorchidism, Obesity, Displacement of the ur... |
ORPHA:893 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Impaired gr... |
OMIM:618157 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Tapered finger, Ventricular septal defect, Micrognathia, Fetal distress, Brac... |
OMIM:619312 |
| Insulin-Like Growth Factor I Deficiency |
|
Short stature, Clinodactyly of the 5th finger, Decreased serum insulin-like growth factor 1, Oste... |
OMIM:608747 |
| Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... |
OMIM:147750 |
| Atelosteogenesis Type I |
|
Polyhydramnios, Absent or minimally ossified vertebral bodies, Abnormal ossification involving th... |
ORPHA:1190 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Fever, Goiter |
ORPHA:83601 |
| Pachydermoperiostosis |
|
Genu varum, Anemia, Hyperhidrosis, Osteomyelitis, Small hand, Arthritis, Clubbing of toes, Abnorm... |
ORPHA:2796 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Bilateral cryptorchidism, Pancreatitis, Elevated h... |
OMIM:619471 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment, Short stature |
OMIM:619058 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Short stature |
OMIM:248360 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Upper limb undergrowth, Short stature, Abnormal cortical bone morpholo... |
ORPHA:166277 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, Hepatomegaly, H... |
OMIM:266510 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Polyhydramnios, Hypoplasia of the thymus, Patellar dislocation, Trun... |
ORPHA:567 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Decreased fertility, Vesicoureteral reflux, Multicystic kidney dysplasi... |
ORPHA:2970 |
| Li-Campeau Syndrome |
|
Hypothyroidism |
OMIM:619189 |
| Abetalipoproteinemia |
|
Hypothyroidism, Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Pes cavus, Hep... |
ORPHA:14 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| MĆ¼llerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism |
ORPHA:2491 |
| Immunodeficiency 32B |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Hypoalbuminemia |
OMIM:226990 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Large for gestational age, Hypoglycemia, Cryptorchidism |
OMIM:619075 |
| Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism |
ORPHA:48377 |
| Isolated Complex I Deficiency |
|
Diabetes mellitus, Hypoglycemia, Failure to thrive, Increased serum pyruvate, Hepatomegaly, Intra... |
ORPHA:2609 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
| Igg4-Related Thyroid Disease |
|
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... |
ORPHA:64744 |
| Kniest Dysplasia |
|
Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Hip contracture, Rhizomelia,... |
OMIM:156550 |
| Down Syndrome |
|
Decreased fertility, Hypothyroidism, Acute megakaryocytic leukemia, Type II diabetes mellitus, Cl... |
ORPHA:870 |
| Bloom Syndrome |
|
Acute myeloid leukemia, Telangiectasia, Small for gestational age, Abnormal proportion of CD8-pos... |
ORPHA:125 |
| Morm Syndrome |
|
Hyperactivity, Micropenis, Truncal obesity |
ORPHA:75858 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypothyroidism, Diabetes mellitus |
ORPHA:391372 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... |
ORPHA:652 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,... |
ORPHA:94068 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Elevated circulating glutaric acid concent... |
OMIM:231680 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Hyperhidrosis, Increased circulating prolactin concentration, Ventricular hypertrophy, Hypopituit... |
OMIM:300942 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Polyhydramnios, Micrognathia, Elbow flexion contracture, Camptodactyly, ... |
ORPHA:56304 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... |
OMIM:110100 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Jaundice, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyper... |
OMIM:615751 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Polyphagia, Eosinophilia, Obesity, Adrenocortical adenoma |
OMIM:248100 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hypothyroidism, Hyperthyroidism, Type II diabetes mellitus, Primary adrenal insufficienc... |
OMIM:269200 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
| Cohen Syndrome |
|
Genu valgum, Arachnodactyly, Tapered finger, Finger syndactyly, Neutropenia, Short stature, Ventr... |
ORPHA:193 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Decreased circulating cortisol level, H... |
OMIM:146510 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Fulminant hepatitis, Elevated circulating C-reactive protein concentration, Hepa... |
OMIM:308240 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Upper limb undergrowth, Congenital megaureter, Restrict... |
ORPHA:369837 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Cog8-Cdg |
|
Failure to thrive, Hypoglycemia, Elevated hepatic transaminase |
ORPHA:95428 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Micr... |
OMIM:609945 |
| Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Genu valgum, Thin bony cortex, Rhizomelia, Short stature, Generalized ... |
OMIM:613848 |
| Distal Monosomy 12Q |
|
2-3 toe syndactyly, Micrognathia, Elbow flexion contracture, Overlapping toe, Unilateral cryptorc... |
ORPHA:96149 |
| Monosomy 13Q34 |
|
Common atrium, Micrognathia, Pulmonic stenosis, Insulin resistance, Postaxial foot polydactyly, H... |
ORPHA:96168 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis, Obesity, Failure to thrive in infancy, Attention deficit hyperactivity disorder |
OMIM:613670 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Hip subluxation, Increased body mass index, Short stature, Microphallus, Small for gestational ag... |
OMIM:300957 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Elevated hepatic transa... |
OMIM:617395 |
| Alexander Disease |
|
Hypothyroidism, Hyperhidrosis, Precocious puberty, Hypothermia, Diabetes mellitus |
ORPHA:58 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Slender build, Short stature, Small for gestational age, Unconjugated hyperbilirubinem... |
OMIM:613658 |
| Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
ORPHA:171 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Weight loss, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Cardiomyopathy, Megaloblastic anemia, Neurogenic bladder, Hyd... |
OMIM:222300 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia, Growth delay |
OMIM:220120 |
| Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated circulating aspa... |
ORPHA:158061 |
| Mccune-Albright Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... |
OMIM:174800 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Hepatosplenomegaly,... |
OMIM:619487 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Anterior pituitary hypoplasia, Vertebral hypoplasia, Short stature, Ventricular... |
OMIM:206900 |
| Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Toxemia of pregnancy, Abnormalit... |
ORPHA:563 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Small hand, Calvarial osteosclerosis, Stenosis of the medullary cavity of the long bones, Cortica... |
ORPHA:93324 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Type I diabetes mellitus |
OMIM:615952 |
| Refractory Celiac Disease |
|
Weight loss, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen physiology, Hypopro... |
ORPHA:398063 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:609054 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Nonketotic hypoglycemia, Acute pancreatitis, Fever, Recurrent hypoglycemia |
ORPHA:20 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Genu varum, Abnormality of renal excretion, Coxa vara, Short stature, Ri... |
ORPHA:289176 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Micrognathia, Dislocated radial head, Dysphagia, Abnormal metaphysis morphol... |
ORPHA:666 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Hypoglycem... |
ORPHA:3008 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Premature ovarian insufficiency, Decreased fetal movement, Elevated circulating cr... |
OMIM:619518 |
| Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... |
ORPHA:86816 |
| HernƔndez-Aguirre Negrete Syndrome |
|
Delayed puberty, Obesity |
ORPHA:2139 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Coxa valga, Micrognathia, Broad hallux, Short palm, Ventricular septal defect... |
OMIM:620073 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Failure t... |
OMIM:603553 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Testicular atrophy, Congenital diaphragmatic hern... |
OMIM:601163 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Absent scrotum, Absence of labia majora, Micrognathia, Hypoplastic labia minora, Decreased serum ... |
ORPHA:495875 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Vesicoureteral reflux, Coxa valga, Short stature... |
ORPHA:2484 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Hyperactivity, Short stature, Congestive heart failure, Obesity |
ORPHA:3077 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... |
ORPHA:93322 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Micrognathia, Postnatal growth retardation, Oral aversion, Hyperhidrosis, Ins... |
ORPHA:96182 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothyroidism, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypotherm... |
ORPHA:488632 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Hallux valgus, Elbow flexion contracture, Elevated ... |
OMIM:256040 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Short foot, Small hand,... |
OMIM:241410 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Hepatic fibrosis, Hepatic failure, Ventricular septal defect, Short stature, Short l... |
OMIM:615630 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Alg9-Cdg |
|
Pericardial effusion, Micrognathia, Abnormal left ventricular outflow tract morphology, Hepatomeg... |
ORPHA:79328 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Neonatal insulin-dependent diabetes mellitus... |
ORPHA:99885 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Micrognathia,... |
OMIM:258315 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Thrombocytopenia, Leukocytosis, Hyperglycemia, Peritonitis, Neutrop... |
ORPHA:391673 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... |
OMIM:618160 |
| Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Sinus tachycardia, Atherosclerosis, Micrognathia, Osteolysis, Rib osteolysis... |
OMIM:614008 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H... |
OMIM:277900 |
| Myhre Syndrome |
|
Precocious puberty, Abnormal cardiac septum morphology, Large iliac wing, Abnormal metaphysis mor... |
ORPHA:2588 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism, Hypoproteinemia, Growth delay, Hepatomegaly, Hypoalbuminemia |
OMIM:226300 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Meningococcal Meningitis |
|
Hypothermia, Fever |
ORPHA:33475 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Pes cavus, Preaxial polydactyly, Hepatomegaly, Mental deterior... |
ORPHA:163681 |
| Achondroplasia |
|
Genu varum, Polyhydramnios, Short femoral neck, Rhizomelia, Death in infancy, Short ribs, Radial ... |
OMIM:100800 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short phalanx of finger, Short toe, Dentinogenesis imperfecta, Precocious puberty, Moderate album... |
OMIM:619269 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... |
ORPHA:293987 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Tapered finger, Short stature |
ORPHA:276630 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Renal cyst, Diabetes mellitus, Vaginal atresia, Hypospadias, Syndact... |
OMIM:605231 |
| 46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level, Ventricular se... |
OMIM:618901 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Chronic hepatic failure, Hypoparathyroidism,... |
ORPHA:746 |
| Megalencephaly |
|
Macroorchidism, Genu valgum, Atrial septal defect, Long penis, Truncal obesity |
ORPHA:2477 |
| Gapo Syndrome |
|
Hypogonadism, Short stature, Atherosclerosis, Micrognathia, Abnormal pelvic girdle bone morpholog... |
ORPHA:2067 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Anemia, Precocious puberty, Weight loss, Neoplasm of the pancreas, Jaundice, Neoplasm of the scro... |
ORPHA:370348 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperleucinemia, Decreased plasma carnitine, Acute hyperammonemia, Failure to thrive, Hypoglycemi... |
OMIM:210210 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Short stature, Microg... |
OMIM:201170 |
| Dysbetalipoproteinemia |
|
Hypercholesterolemia, Hypothyroidism, Diabetes mellitus, Acute pancreatitis, Xanthelasma, Hypertr... |
ORPHA:412 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Severe shor... |
OMIM:173100 |
| Charge Syndrome |
|
Hypothyroidism, Polyhydramnios, Gonadotropin deficiency, Micrognathia, Secundum atrial septal def... |
OMIM:214800 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Nodular goiter, Osteolysis, Increased susceptibility to fractures, Double ou... |
ORPHA:371428 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... |
OMIM:608728 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... |
ORPHA:572333 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... |
OMIM:277170 |
| 14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Diabetes insipidus, Anterior pituitary hypoplasia, Short 4th metacarpal, Short foo... |
ORPHA:264200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia |
OMIM:611126 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Mesomelic short stature, Neonatal short-limb short stature... |
OMIM:156230 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Hypogonadism, External genital hypoplasia, Moderate albuminuria, Jaundice, Elevated hepatic trans... |
OMIM:614231 |
| Methimazole Embryofetopathy |
|
Hypothyroidism, Abnormality of the thyroid gland |
ORPHA:1923 |
| Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Short stature, Elbow flexion... |
ORPHA:93333 |
| Diethylstilbestrol Syndrome |
|
Premature birth, Decreased fertility in females, Abnormal testis morphology, Small for gestationa... |
ORPHA:1916 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Atherosclerosis, Abnormal blood ion concentration, Steatorrh... |
ORPHA:95427 |
| 6Q16 Microdeletion Syndrome |
|
Tapered finger, Micrognathia, Long foot, Polyphagia, Obesity |
ORPHA:171829 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Microvesicular hepatic steatosis, Bilateral cryptorchidism, Elevated hepatic tran... |
ORPHA:66634 |
| Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Insulin resistance, M... |
ORPHA:439167 |
| Fructose Intolerance, Hereditary |
|
Cirrhosis, Hyperuricemia, Glycosuria, Jaundice, Hypophosphatemia, Elevated hepatic transaminase, ... |
OMIM:229600 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Decreased prealbumin level, Hyperthyroidism, Hepatitis, Thyroiditis, Cachexia, El... |
ORPHA:37042 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Recurrent fractures, Short stature, Slender long bone, Micrognathia, Abnormal cor... |
ORPHA:1486 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Elevate... |
OMIM:613327 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Cognitive impairment, Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysp... |
OMIM:615989 |
| Hereditary Fructose Intolerance |
|
Hyperuricemia, Hypophosphatemia, Jaundice, Chronic hepatic failure, Hypermagnesemia, Reactive hyp... |
ORPHA:469 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce... |
ORPHA:186 |
| Spinocerebellar Ataxia 32 |
|
Cognitive impairment, Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:229700 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Short stature, Failure to thrive, Attention deficit h... |
OMIM:619151 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Micrognathia, Duplication of phalanx of hallux, Bifid uterus, Adrenal gland dysge... |
OMIM:236680 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Hyponatremia |
OMIM:608688 |
| Summitt Syndrome |
|
Syndactyly, Obesity, Craniosynostosis |
OMIM:272350 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, Short stature, Micromelia, Atrial septal defect, Abnormality of the ureter, Sandal g... |
ORPHA:1035 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Coarctation of aorta, Cent... |
ORPHA:280195 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Preaxial hand polydactyly, Disproportionate shortening of the tibia, Hydrops... |
OMIM:263520 |
| Myotonic Dystrophy 1 |
|
Polyhydramnios, Hypogonadism, Decreased fetal movement, Testicular atrophy, Dysphagia, Atrial flu... |
OMIM:160900 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Micromelia, Oligo... |
OMIM:251230 |
| Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Abnormal response to ACTH st... |
OMIM:615577 |
| Cornelia De Lange Syndrome |
|
Toe syndactyly, Micrognathia, Hypoplastic labia majora, Hip dislocation, Primary amenorrhea, Vesi... |
ORPHA:199 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Bicornuate uterus, Micrognathia, Hypoplastic left atrium, Congenital d... |
OMIM:615524 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... |
OMIM:249700 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased fetal movement, Cystinuria, Failure to thrive, Polyphagia, Growth delay, Nephrolithiasis |
ORPHA:163690 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... |
ORPHA:83451 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
| Omenn Syndrome |
|
Hypothyroidism, Thyroiditis, Fever |
ORPHA:39041 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypothyroidism, Hypopituitarism, Hypercholesterolemia |
ORPHA:90065 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Micropenis, Truncal obesity |
OMIM:610156 |
| Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Abnormality of temperature regulation, Hypothermia, Fever |
OMIM:618493 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Micrognathia, Camptodactyly, Thrombocytopenia, Postnatal growth retard... |
OMIM:611209 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Urinary incontinence, Short stature, Hip dislocation, Puberty and gonadal disorders, Abnormality ... |
ORPHA:464282 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor... |
OMIM:194072 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Whipple Disease |
|
Hypotension, Hypothyroidism, Anemia, Pedal edema, Arthritis, Cachexia, Insulin resistance, Erecti... |
ORPHA:3452 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Toe syndactyly, Micrognathia, Short hallux, Hypoglycemia, Abnormal metap... |
ORPHA:2710 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypothyroidism, Diabetes mellitus, Hypogonadism |
ORPHA:98673 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Genu valgum, Precocious puberty, Tapered finger, Broad long bone diaphyses, Hip dysplasia, Talipe... |
OMIM:301066 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypocalcemia, Hypoproteinemia, Growth delay, Peritoneal effusion, Hypomagnesemia, Hy... |
ORPHA:90362 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Adducted thumb, Hypoplastic spleen, Intrauterine growth retardation, Rocker bottom foot |
ORPHA:89844 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
| Spinocerebellar Ataxia Type 32 |
|
Cognitive impairment, Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Polyhydramnios, Premature thelarche, Flexion contracture, Patellar dislocation, Micr... |
OMIM:180849 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Growth delay, Hypercholesterolemia, Peritonitis, Hypert... |
ORPHA:567548 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short stature, Hip dysplasia, Micrognathia, Clinodactyly of the 5th finger, Pes valgus, Polyphagi... |
OMIM:156200 |
| Vipoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Neoplasm of the liver, Incr... |
ORPHA:97282 |
| Lethal Kniest-Like Dysplasia |
|
Abnormality of the ischium, Wide anterior fontanel, Hypoplastic ilia, Mesomelic/rhizomelic limb s... |
ORPHA:2347 |
| Alg1-Cdg |
|
Decreased liver function, Hypoalbuminemia |
ORPHA:79327 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Ivory epiphyses of the phalanges of the hand, Hepatomegaly, ... |
OMIM:216400 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Short femur, Omphalocele, A... |
OMIM:601357 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity, Short stature |
ORPHA:1193 |
| Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Urinary incontinence, Abnormal finger morphology, Short stature,... |
ORPHA:404448 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism |
OMIM:619908 |
| Kniest Dysplasia |
|
Dumbbell-shaped long bone, Abnormality of the epiphysis of the femoral head, Enlarged epiphyses, ... |
ORPHA:485 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Premature birth, Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Fe... |
ORPHA:440354 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Short stature, Abnormal cortical bone morphology, Unilateral renal agenesi... |
ORPHA:2512 |
| Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Abnormal trabecular bone morphology, Metaphyseal striations, Aplastic an... |
ORPHA:221016 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Double outlet right ventricle, Abnormal sperm motility, Polysplenia, Atrial situs ambig... |
ORPHA:244 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Breech presentation, Metrorrhagia, Partial vaginal septum, Abnormal uterine cer... |
ORPHA:3411 |
| Man1B1-Cdg |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Joint hypermobility, Polyphagia, Truncal obesity |
ORPHA:397941 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Short stature, Failure to thrive, Hypoglycemia, Joint contracture, Intrauterine g... |
OMIM:618005 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, Short stature, Patellar dislocation, Micrognath... |
OMIM:147891 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:157 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Hypothyroidism, Diabetes mellitus |
ORPHA:263297 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Ventricular septal defect, S... |
ORPHA:2256 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Pseudobulbar paralysis, Supernumerary nipple, Slender build, Tricuspid regurgitati... |
ORPHA:466791 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Elevated hepatic transaminase, Elevated circula... |
ORPHA:480864 |
| Mayer-Rokitansky-KĆ¼ster-Hauser Syndrome Type 2 |
|
Short stature, Bicornuate uterus, Azoospermia, Ectopic kidney, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:616355 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Short metacarpal, Eleva... |
OMIM:603233 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... |
ORPHA:91350 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypothyroidism, Hypohidrosis, Hypoparathyroidism |
ORPHA:1563 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... |
OMIM:609616 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Inguinal hernia, Delayed puberty, Male pseu... |
ORPHA:754 |
| Distal Monosomy 15Q |
|
Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Abnormal aortic arch morpholog... |
ORPHA:1596 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity, Hypertension |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity, Hypertension |
OMIM:605572 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616267 |
| StĆ¼ve-Wiedemann Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Flexion contracture, Elbow flexion contracture, Thickene... |
ORPHA:3206 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Primary amenorrhea, Abnormal carpal morphology, Short middle phalanx of the 5th finger, Short sta... |
ORPHA:319675 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Genu varum, Genu valgum, Metaphyseal irregularity, Fragmented, irregular... |
OMIM:177170 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Elevated circulating acylcarnitine concentration, Premature thelarche, Elevated h... |
OMIM:616878 |
| Septooptic Dysplasia |
|
Diabetes insipidus, Polydactyly, Anterior pituitary hypoplasia, Decreased response to growth horm... |
OMIM:182230 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Brachydactyly, Renal hypoplasia, Obesity, Postaxial polydactyly, Tri... |
OMIM:600151 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| Kleefstra Syndrome |
|
Supernumerary nipple, Pulmonary artery stenosis, Talipes equinovarus, Vesicoureteral reflux, Vent... |
ORPHA:261494 |
| 2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology, Multicystic kidney dysplasia, Finger syndactyly, Short metacarpal, Sm... |
ORPHA:1001 |
| Rothmund-Thomson Syndrome |
|
Broad ulna, Increased susceptibility to fractures, Anemia, Neutropenia, Short stature, Abnormal t... |
ORPHA:2909 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Conotruncal defect, Abnormal testis morphology, Abnormal cardiac septum mo... |
ORPHA:96147 |
| Wagro Syndrome |
|
Decreased testicular size, Micrognathia, Hypertension, Agitation, Hypoplastic female external gen... |
OMIM:612469 |
| Congenital Enterovirus Infection |
|
Hypothermia, Fever |
ORPHA:292 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
| Laurence-Moon Syndrome |
|
Polydactyly, Short stature, Obesity, Small scrotum, Micropenis |
OMIM:245800 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Anterior pituitary hypoplasia, Micropenis, Pituitary hypothyroidism |
OMIM:619983 |
| Pituitary Carcinoma |
|
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... |
ORPHA:300385 |
| Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Absence of subcutaneous fat, Corneal scarring, Cachexia, Elevated hepatic tran... |
OMIM:610965 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Gorham-Stout Disease |
|
Abnormal bone ossification, Osteomyelitis, Abnormal finger morphology, Osteolysis involving bones... |
ORPHA:73 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Joint laxity, Disproportionate ta... |
OMIM:301039 |
| Cln3 Disease |
|
Memory impairment, Urinary bladder sphincter dysfunction, T-wave inversion, Left ventricular hype... |
ORPHA:228346 |
| Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Thyroid adenoma, Goiter |
OMIM:615108 |
| Rafiq Syndrome |
|
Flexion contracture, Short stature, Clinodactyly of the 5th finger, Joint laxity, Joint hypermobi... |
OMIM:614202 |
| 46,Xy Sex Reversal 4 |
|
Hydronephrosis, Distal symphalangism, Sex reversal, Micrognathia, Hypoplastic labia majora, Agona... |
OMIM:154230 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Kabuki Syndrome |
|
Precocious puberty, Short 5th finger, Small hand, Short stature, Crossed fused renal ectopia, Abn... |
ORPHA:2322 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Hyporeflexia of low... |
ORPHA:98855 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Decreased body weight, Decreased plasma carnitine, Decreased serum iron, Fai... |
ORPHA:89842 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... |
OMIM:609152 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Dentinogenesis imperfecta, Genu varum, Metaphyseal cupping, Short metaca... |
OMIM:184260 |
| Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Short 5th finger, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensib... |
OMIM:618821 |
| Williams-Beuren Syndrome |
|
Hypothyroidism, Flexion contracture, Coronary artery stenosis, Hallux valgus, Supravalvular aorti... |
OMIM:194050 |
| Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Hydroxyprolinuria, Femoral bowing, Short femur, Osteoscler... |
OMIM:602080 |
| Somatostatinoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97283 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomega... |
ORPHA:540 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Abnormal bone structure, Intra... |
ORPHA:86822 |
| Somatomammotropinoma |
|
Broad foot, Tapered finger, Impotence, Anterior hypopituitarism, Hypertrophic cardiomyopathy, Pit... |
ORPHA:314769 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Short stature, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Dorsocervical fat pad, P... |
OMIM:615830 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Tapered finger, Short foot, Small hand, Short stature, Clinodactyly, Sandal gap, T... |
OMIM:618089 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... |
ORPHA:53697 |
| Lig4 Syndrome |
|
Hypothyroidism, Telangiectasia, Pancytopenia, Failure to thrive, Cryptorchidism, Thrombocytopenia... |
OMIM:606593 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:617710 |
| Acromegaly |
|
Broad foot, Tapered finger, Impotence, Anterior hypopituitarism, Long penis, Hypertrophic cardiom... |
ORPHA:963 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
| Basilicata-Akhtar Syndrome |
|
Broad foot, Precocious puberty, Short foot, Camptodactyly, Neonatal hypoglycemia, Adducted thumb,... |
OMIM:301032 |
| Cohen Syndrome |
|
Leukopenia, Childhood-onset truncal obesity, Genu valgum, Tapered finger, Decreased response to g... |
OMIM:216550 |
| Hand-Foot-Genital Syndrome |
|
Pseudoepiphyses, Short 5th finger, Shortening of all middle phalanges of the fingers, Short hallu... |
OMIM:140000 |
| Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Delayed puberty, H... |
OMIM:232240 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Micrognathia, Metacarpal osteolysis, Pes cavus, Anti... |
OMIM:259600 |
| Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Proximal lower limb... |
ORPHA:261 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Ankle clonus, Urinary bladder sphincter dysfunction, Urinary urgency, Pes c... |
OMIM:604360 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Proximal lower limb... |
ORPHA:98853 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Bilateral talipes equinovarus, Obesity, Polyphagia |
OMIM:616521 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Penile hypospadias, Short 5th finger, Abnormal bone ossificati... |
ORPHA:73230 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism |
OMIM:607906 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Omphalocele, Death in infancy |
OMIM:258320 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... |
OMIM:113000 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Hypothyroidism, Short 5th finger, Camptodactyly, Metatarsus adductus, Pe... |
OMIM:607872 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Frontotemporal Dementia |
|
Frontotemporal dementia, Frontal lobe dementia, Dementia, Polyphagia, Disinhibition |
OMIM:600274 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Familial Expansile Osteolysis |
|
Thin bony cortex, Hydroxyprolinuria, Osteolysis, Pathologic fracture, Bowing of the long bones |
OMIM:174810 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Klippel-TrƩnaunay Syndrome |
|
Pulmonary embolism, Hydrops fetalis, Cellulitis, Abnormality of the menstrual cycle, Hematuria, A... |
ORPHA:90308 |
| Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypothyroidism, Hyperthyroidism, Diabetes mellitus |
ORPHA:449291 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Polyphagia |
ORPHA:411515 |
| Seckel Syndrome 1 |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Hypoplasia of p... |
OMIM:210600 |
| Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Thyroid adenoma, Goiter |
OMIM:615109 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Proximal lower limb... |
ORPHA:98863 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228308 |
| Familial Calcium Pyrophosphate Deposition |
|
Arthritis, Osteoarthritis, Calcification of cartilage, Limitation of joint mobility |
ORPHA:1416 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Sagittal craniosynostosis, Small hand, Short stature, Bicornuate uterus, Sh... |
OMIM:145420 |
| Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Patellar dislocation, Truncus arteriosus, Micrognathia,... |
OMIM:188400 |
| Shigellosis |
|
Hepatic failure, Abnormal blood ion concentration, Hypoglycemia, Cholestasis, Hyponatremia, Perit... |
ORPHA:810 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Genu valgum, Femoroacetabular impingement, Abnormal lower... |
ORPHA:321 |
| Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Sea-blue histiocytosis, Splenomegaly, Coxa valga, Hypoplastic vertebral bodies,... |
OMIM:230600 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Grfoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97261 |
| Hypophosphatemic Rickets |
|
Precocious puberty, Hyperphosphaturia, Fibrous dysplasia of the bones, Osteomalacia, Abnormal low... |
ORPHA:437 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism |
OMIM:618999 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Biliary tract abnormality, Nephrolithiasis, Glucose intolerance, H... |
OMIM:137920 |
| 4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Delayed puberty, Decreased response to growth hormone stimulation ... |
ORPHA:289494 |
| Caffey Disease |
|
Cellulitis, Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperost... |
ORPHA:1310 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, Unilateral cryptorchidism, 2-3 toe cutane... |
OMIM:206920 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, ... |
ORPHA:69663 |
| Bloom Syndrome |
|
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Hand polyda... |
OMIM:210900 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Sandal gap, Clinodactyly |
OMIM:617752 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Micrognathia, Supernumerary nipple, Joint hypermobility, Inguinal hernia, Att... |
OMIM:619243 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Precocious puberty, Decreased body weight, Dysplastic pulmonary valve |
OMIM:300958 |
| Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... |
ORPHA:231226 |
| Pick Disease Of Brain |
|
Disinhibition, Frontotemporal dementia, Polyphagia |
OMIM:172700 |
| Lig4 Syndrome |
|
Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Micrognathia, Hypoplasia of the uterus, Ventricular septal defect, Bicornuate... |
OMIM:601186 |
| Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Short stature, Small pituitary gland, Ecto... |
OMIM:619476 |
| Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Hypocalcemia, Hypoglycemia |
OMIM:228100 |
| Bronchial Neuroendocrine Tumor |
|
Hypotension, Hepatic failure, Facial telangiectasia, Increased circulating cortisol level, Weight... |
ORPHA:97287 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism |
OMIM:619750 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Bicornuate uterus, Micrognathia, Azoospermia, Unilateral renal agenesis, Ectopic k... |
OMIM:601076 |
| Congenital Myopathy 9A |
|
Short stature, Death in infancy, Oligohydramnios, Cryptorchidism, Obesity |
OMIM:618822 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Short long bone, Camptodactyly, Congestive heart failure, Death ... |
OMIM:619751 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Type I diabetes mellitus |
OMIM:304790 |
| Ppoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97278 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... |
ORPHA:71 |
| Rhyns Syndrome |
|
Decreased response to growth hormone stimulation test, Short femoral neck, Short stature, Short l... |
OMIM:602152 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Glycosuria, Inguinal hernia, Congenit... |
OMIM:600001 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Precocious puberty, Joint laxity |
ORPHA:457260 |
| Glucagonoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97280 |
| Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Tracheomalacia |
OMIM:245650 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypohidrosis, Hypothyroidism, Decreased serum insulin-like growth factor 1, Decreased response to... |
ORPHA:363528 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia |
ORPHA:2070 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... |
ORPHA:231720 |
| Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Reticulocytosis, Lacticacid... |
ORPHA:699 |
| Wilson Disease |
|
Cirrhosis, Anemia, Weight loss, Hepatitis, Arthritis, Jaundice, Abnormality of the menstrual cycl... |
ORPHA:905 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Abnormal trabecular bone morphology, Osteopetrosis, Growth delay, Hepatomegaly, Femur fra... |
OMIM:612301 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Arthritis, Clubbing of toes, Abnormal cortical bone morphology, Abnormal... |
ORPHA:1525 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Hypertension, Oligohydramnios, Vaginal atresia, Primary amenorrhea, Proteinuri... |
OMIM:191830 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Ambiguous genitalia, Cone-shaped epiphysis, Short stature, Short long bone, Short ribs, Enlarged ... |
OMIM:613091 |
| Beta-Thalassemia Intermedia |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism |
ORPHA:231222 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
| Myhre Syndrome |
|
2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Radial deviation of fin... |
OMIM:139210 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Kohlschutter-Tonz Syndrome-Like |
|
2-3 toe syndactyly, Enamel hypoplasia, Decreased body weight, Small hand, Short foot, Caesarian s... |
OMIM:619229 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Recurrent fractures, Abnormal finger morphology, Short stature, Hyperphosphat... |
OMIM:163200 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Precocious puberty, Tapered finger, Short stature, Large for gestational a... |
ORPHA:261652 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Decreased liver fu... |
OMIM:124000 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Micrognathia, Short distal phalanx of toe, Bilateral triphalangeal thumbs, At... |
OMIM:619356 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short phalanx of finger, Short toe, Hyperactivity, Subvalvular aortic stenosis, Short metacarpal,... |
OMIM:600430 |
| B4Galt1-Cdg |
|
Hypothyroidism |
ORPHA:79332 |
| Immunodeficiency 59 And Hypoglycemia |
|
Prolonged neonatal jaundice, Short stature, Hepatomegaly, Hypoglycemia |
OMIM:233600 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Short stature, Abnormality of circulating cortisol level... |
ORPHA:320 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Primrose Syndrome |
|
Hypothyroidism, Flexion contracture, Metatarsus adductus, Elevated circulating alpha-fetoprotein ... |
OMIM:259050 |
| Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Large for gestational age, Penile freckling, Lymphopenia, Overgrowth, Joint lax... |
OMIM:605309 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Ventricular septal defect, Bicornuate uterus, Abnormality of the uterus, ... |
ORPHA:2143 |
| Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Congenital hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:601427 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Tapered finger, Clinodactyly of the 5th finger, Syndactyly, Attention deficit hyperactivity disor... |
OMIM:618725 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thin bony cortex, Recurrent fractures, Short stature, Hyperextensibility of the finger joints, Lo... |
OMIM:309583 |
| Ddost-Cdg |
|
Primary hypothyroidism |
ORPHA:300536 |
| Adult-Onset Still Disease |
|
Cartilage destruction, Hepatitis, Arthritis, Neutrophilia, Generalized lymphadenopathy, Bone marr... |
ORPHA:829 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... |
OMIM:221750 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Fever |
ORPHA:514 |
| Monosomy 18P |
|
Hypothyroidism |
ORPHA:1598 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Genu valgum, Metaphyseal irregularity, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
| Spondyloocular Syndrome |
|
Thin bony cortex, Decreased body weight, Short stature, Dysplastic aortic valve, Mitral valve pro... |
OMIM:605822 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Elevated hepatic transaminase, Hepatic steatosis, Talipes equinovarus, Nuc... |
OMIM:619475 |
| Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Weight loss, Short stature, Thyroiditis, Infertility, Elevated hepatic transam... |
OMIM:212750 |
| MƩnƩtrier Disease |
|
Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Genu valgum, Flexion contracture, Short stature, Decreased testicular size, Azotemia, Hepatic ste... |
OMIM:619321 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
| Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Brachydactyly, Flared metaphysis, Trident hand |
OMIM:146000 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Hydrops fetalis, Pericardial constriction, Short stature, Hypoplastic frontal ... |
OMIM:253250 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormal spermatogenesis, Cognitive impairment, Hypergonadotropic hypogonadism |
ORPHA:90646 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hallux valgus, Obesity, Cone-shaped epiphyses of the 2nd toe, Cone-shaped epiphyse... |
ORPHA:397973 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hip dislocation, Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 2nd fing... |
OMIM:616263 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Spina bifida occulta, Peripheral pulmonary artery stenosis, 3-5 toe syndactyly, S... |
OMIM:300707 |
| Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
| Sponastrime Dysplasia |
|
Hip subluxation, Hypothyroidism, Broad foot, Precocious puberty, Flat capital femoral epiphysis, ... |
ORPHA:93357 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... |
OMIM:614078 |
| Juvenile Idiopathic Arthritis |
|
Cartilage destruction, Arthritis, Abnormal sacroiliac joint morphology, Hepatomegaly, Mediastinal... |
ORPHA:92 |
| Gray Platelet Syndrome |
|
Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
| Opitz Gbbb Syndrome |
|
Micrognathia, Thyroglossal cyst, Dysphagia, Aortic root aneurysm, Vesicoureteral reflux, Patent f... |
ORPHA:2745 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Polyhydramnios, Wrist flexion contracture, Micrognathia, Nonimmune hydro... |
OMIM:208150 |
| Nephronophthisis 15 |
|
Nephronophthisis, Polydactyly, Obesity, Elevated hepatic transaminase |
OMIM:614845 |
| Witteveen-Kolk Syndrome |
|
Polyhydramnios, Toe syndactyly, Overlapping toe, Unilateral cryptorchidism, Radial deviation of f... |
OMIM:613406 |
| White-Sutton Syndrome |
|
Broad foot, Hyperactivity, Patent foramen ovale, Short stature, Micrognathia, Joint laxity, Atria... |
OMIM:616364 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss, Glycosuria, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypoglycemia,... |
ORPHA:3337 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism |
OMIM:617763 |
| Poems Syndrome |
|
Hypothyroidism, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insu... |
ORPHA:2905 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Short stature, Abnormal foot morphology, Hip dislocation, Dislocated radial head, Ta... |
OMIM:605274 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism |
OMIM:618829 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Contractures of the large joints, Aplasia/Hypoplasia of the gallbladder, Micr... |
ORPHA:96092 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypothyroidism, Polydactyly, Premature thelarche, Tapered finger, Hallux valgus, Breast aplasia, ... |
ORPHA:268261 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Thyroiditis, Type I diabetes mellitus |
OMIM:606367 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Pes cavus, 2-3 toe cutaneous syndactyly, Precocious puberty, Pes planus |
OMIM:300801 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Micrognathia, Increased placental thickness, Clubbing of fingers, Limb under... |
ORPHA:1865 |
| Momo Syndrome |
|
Short sternum, Abnormal bone ossification, Short stature, Large for gestational age, Congenital p... |
ORPHA:2563 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Short stature, Toe syndactyly, Foot polydactyly, Micrognathia, Short finger, Hand po... |
OMIM:258860 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Hematuria, Thrombocytopenia, Hypoplastic sp... |
OMIM:185070 |
| Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... |
ORPHA:231214 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Urinary incontinence, Pulmonary arterial hypertension, Palmoplantar cutis... |
OMIM:616482 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Broad foot, Advanced ossification of carpal bones, Coxa valga, Hip dislo... |
OMIM:615777 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism |
ORPHA:300298 |
| Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
| Bainbridge-Ropers Syndrome |
|
Polyhydramnios, Arachnodactyly, Precocious puberty, Caesarian section, Death in infancy, Microgna... |
OMIM:615485 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypothyroidism, Hashimoto thyroiditis, Type I diabetes mellitus |
OMIM:613385 |
| Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Bicornuate uterus, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hy... |
ORPHA:958 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
| Kleefstra Syndrome 1 |
|
Tracheobronchomalacia, Conotruncal defect, Hypospadias, Cryptorchidism, Brachydactyly, Obesity, M... |
OMIM:610253 |
| Avian Influenza |
|
Hepatitis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:454836 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Hallux valgus, Obesity, Cone-shaped epiphysis |
OMIM:606772 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Polyphagia |
OMIM:618774 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Encephalocele, Ventricular septal defect, Bicornuate uterus... |
OMIM:264480 |
| Sotos Syndrome |
|
Genu valgum, Ventricular septal defect, Decreased fetal movement, Pes planus, Neonatal hypoglycem... |
OMIM:117550 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hypoplastic labia majora, Hepatoblastoma, Thickened cortex of long bones, Postaxial hand polydact... |
OMIM:269150 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Pes cavus, Testicular atrophy, Hypergonado... |
OMIM:157640 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Cryptorchidism, H... |
OMIM:618183 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Short stature, Clinodactyly, Delayed puber... |
OMIM:615866 |
| Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Thyroid adenoma, Goiter |
OMIM:158350 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Perimembranous ventricular septal defect, Premature ovarian insufficiency, Left-to-right shunt, C... |
ORPHA:363444 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Hypothyroidism, Micrognathia, Hypoplasia of proximal radius, Aortic root aneurys... |
ORPHA:444077 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Rhizomelia, Short 5th metacarpal, Femoral bowing, Broad t... |
OMIM:619638 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Tapered finger, Micrognathia, Hip dislocation, Hypoglycemia, Delayed epiphys... |
OMIM:616007 |
| Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Scarring, Hip dislocation, Osteolysis, Dysphagia, Short palm, Aplas... |
ORPHA:198 |
| Partial Deletion Of The Short Arm Of Chromosome 7 |
|
Aplasia of the distal phalanx of the 5th finger, Contracture of thumb, Short foot, Small hand, Sh... |
ORPHA:261911 |
| Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Fever, Diabetes insipidus |
OMIM:225750 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypothermia, Anhidrosis, Temperature instability, Decreased sweating due to autonomic dysfunction |
ORPHA:99027 |
| Adiposis Dolorosa |
|
Hypothyroidism, Xerostomia |
ORPHA:36397 |
| Perlman Syndrome |
|
Large for gestational age, Congenital diaphragmatic hernia, Hypoglycemia, Cryptorchidism, Pancrea... |
OMIM:267000 |
| Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transfer... |
ORPHA:90363 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hyperhidrosis, Intermittent hypothermia, Temperature instability |
OMIM:608643 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Micrognathia, Primary adrenal insufficiency, Absent crus of helix, Posta... |
ORPHA:2753 |
| Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:99819 |
| Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Elevated hepatic transaminase, Weight loss, Hypoalbuminemia |
ORPHA:67 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Short first metatarsal, Short 1st metacarpal, Bicornuate uterus, Ventricul... |
ORPHA:2438 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Polyhydramnios, Patellar dislocation, Micrognathia, Broad hallux, Widened distal pha... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Polyhydramnios, Patellar dislocation, Micrognathia, Broad hallux, Widened distal pha... |
ORPHA:353277 |
| Gaisbƶck Syndrome |
|
Angina pectoris, Hypercholesterolemia, Splenomegaly, Hyperuricemia, Increased red blood cell coun... |
ORPHA:90041 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Jaundice, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine ... |
ORPHA:79282 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus |
ORPHA:456312 |
| Achondroplasia |
|
Limited elbow extension, Wide anterior fontanel, Rhizomelia, Short long bone, Flat acetabular roo... |
ORPHA:15 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Tapered finger, Short stature, Truncal obesity |
ORPHA:85280 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis, Mesomelic short stature |
OMIM:127350 |
| Chops Syndrome |
|
Vesicoureteral reflux, Cervical C2/C3 vertebral fusion, Patent foramen ovale, Ventricular septal ... |
OMIM:616368 |
| Al Amyloidosis |
|
Abnormality of the liver, Weight loss, Increased circulating NT-proBNP concentration, Abnormal sa... |
ORPHA:85443 |
| Baralle-Macken Syndrome |
|
Urinary incontinence, Obesity, Tapered finger, Pes planus |
OMIM:619255 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Neonatal hypoglycemia, Cryptorchidism |
ORPHA:457485 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Hepatosplenomegaly, Osteolysis, Thrombocytopenia, Splenomegaly, Enlarged ki... |
ORPHA:464329 |
| Immunodeficiency 61 |
|
Arthritis, Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Polyhydramnios, Hyperactivity, Decreased body weight, Abnormal cardiac septum morphology, Bundle ... |
ORPHA:589821 |
| Shashi-Pena Syndrome |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:617190 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Rhizomelia, Neonatal hypoglycemia, Hepatic steatosis, Growth delay, Intraute... |
OMIM:616271 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Abnormal external genitalia, ... |
OMIM:158330 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Precocious puberty, Pineal cyst, Primary adrenal insufficiency, Positional foot d... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Pineal cyst, Primary adrenal insufficiency, Positional foot d... |
ORPHA:363958 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... |
OMIM:184253 |
| Holoprosencephaly |
|
Spinal dysraphism, Anterior hypopituitarism, Hypoglycemia, Hyponatremia, Diabetes insipidus, Bran... |
ORPHA:2162 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Death in infancy, Micrognathia, Polysplenia, Clinodactyly of the 5th finger, Broad hallux, Failur... |
OMIM:610543 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland, Nasofrontal encephalocele |
OMIM:614195 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Atrioventricular canal defect, Fin... |
ORPHA:2751 |
| Microform Holoprosencephaly |
|
Hypothyroidism, Maternal diabetes, Panhypopituitarism |
ORPHA:280200 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Abnormal distal phalanx morpholo... |
ORPHA:2636 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Hypovo... |
ORPHA:64739 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Genu valgum, Metaphyseal sclerosis, Palmoplantar cutis laxa, Flat acetabular roof, Bladder divert... |
ORPHA:2976 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Genu valgum, Coxa vara, Short femoral neck, Abnormality of the epiphysis o... |
ORPHA:93316 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Thyroid carcinoma, Short stature, Cachexia, Hashimoto thyroiditis... |
ORPHA:109 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Patellar dislocation, Broad hallux, Nephrolithiasis, Vesicoureteral reflux, Avascular necrosis of... |
ORPHA:353281 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Palmoplantar keratoderma, Obesity, Osteoarthritis, Abnormal pelvis bone morphology |
ORPHA:2206 |
| 9P13 Microdeletion Syndrome |
|
Precocious puberty, Short stature, External genital hypoplasia, Clinodactyly of the 5th finger, A... |
ORPHA:324313 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Ambiguous genitalia, Aplasia/hypoplasia of the femur, Micrognathia, Disl... |
ORPHA:2839 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the liver, Abnormality of the pancr... |
ORPHA:543 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Toe syndactyly, Micrognathia, Camptodactyly, Bifid uterus, Radial deviation of fi... |
OMIM:256520 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Type II diabetes mellitus, Obesity, Hypertension, Myocardial infarct... |
OMIM:618620 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:424 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Supernumerary nipple, Pes cavu... |
ORPHA:3224 |
| Ataxia-Telangiectasia |
|
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Short... |
OMIM:208900 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Enamel hypoplasia, Tracheobronchomalacia, Patent foramen ovale, Short long bone... |
OMIM:619184 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Flexion contracture, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoalbuminemia |
OMIM:617303 |
| Shox-Related Short Stature |
|
Genu valgum, Short foot, Short stature, Micrognathia, Lower limb undergrowth, Ulnar radial head d... |
ORPHA:314795 |
| Pmm2-Cdg |
|
Multiple joint contractures, Impaired neutrophil chemotaxis, Pericardial effusion, Elevated hepat... |
ORPHA:79318 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... |
OMIM:201810 |
| 46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level, Sex reversal |
OMIM:613080 |
| 17Q24.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Upper limb undergrowth, Decreased response to growth hormone stimulation t... |
ORPHA:529962 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Short long bone, Maternal diabetes, Delayed ossification of carpal bones,... |
ORPHA:93346 |
| Melas |
|
Hypothyroidism, Recurrent pancreatitis, Type II diabetes mellitus, Type I diabetes mellitus, Diab... |
ORPHA:550 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Hypogonadism, Short stature, Erythroid hypoplasia, Testicular atrophy, Growth delay, Pure... |
OMIM:618165 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hypothyroidism |
OMIM:617796 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Thyroid lymphangiectasia, Mild postnatal growth retardation, Campt... |
OMIM:235510 |
| Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Hepatitis, Fasciitis, Hypocalcemia, Elevated circulating creatine kinase concentratio... |
ORPHA:36234 |
| Meacham Syndrome |
|
Blind vagina, Septate vagina, Aplasia of the left hemidiaphragm, Ventricular septal defect, Bicor... |
OMIM:608978 |
| Leigh Syndrome |
|
Hepatic failure, Hyperalaninemia, Multiple joint contractures, Failure to thrive, Hypoglycemia, G... |
ORPHA:506 |
| Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:609053 |
| Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Thalamic edema, Stiff neck, Dilatation of the ventricular cav... |
ORPHA:2177 |
| Thyroid Ectopia |
|
Hypothyroidism, Ectopic thyroid, Abnormality of the thyroid gland |
ORPHA:95712 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Telangiectasia, Cognitive impairment, Pes cavus, Abnormal toe morphology, Distal lower limb muscl... |
ORPHA:459033 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Elevated hepatic transaminase, Hepatic steatosis, Polydipsia, Hyperuricemia, Apla... |
ORPHA:93111 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Hepatic cysts, Polydactyly, Brachydactyly, Short long bone |
OMIM:613819 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
2-3 toe syndactyly, Vesicoureteral reflux, Patent foramen ovale, Tapered finger, Tibial torsion, ... |
OMIM:618653 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Calvarial osteosclerosis, Short stature, Stenosis of the medullary cavity of the long bon... |
ORPHA:93325 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypothyroidism, Thyroiditis, Type I diabetes mellitus |
ORPHA:228426 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... |
ORPHA:67045 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Micr... |
ORPHA:96191 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, Short stature, Scarring alopecia of scalp, Neonatal hypoglycemia, Severe pos... |
ORPHA:35173 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Thyroiditis, Type I diabetes mellitus |
OMIM:614700 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Intrauterine growth retardation, Neonatal hypoglycemia, Cryptorchidism |
ORPHA:565624 |
| Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Ambiguous genitalia, Broad foot, Limb undergrowth, Hepatomegaly, Short palm, Sple... |
OMIM:269860 |
| Microsporidiosis |
|
Prostatitis, Cachexia, Biliary tract abnormality, Decreased proportion of CD4-positive helper T c... |
ORPHA:2552 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism |
ORPHA:85321 |
| Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip dislocation, Abnormality of the uret... |
OMIM:200980 |
| Immunodeficiency 31C |
|
Hypothyroidism, Delayed puberty, Fever, Diabetes mellitus |
OMIM:614162 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tapered finger, Micrognathia, Radial deviation of finger, Slender finger, Talipes equinovarus, Ve... |
OMIM:309580 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Hypothyroidism, Delayed puberty, Decreased response to growth hormone stimulation test |
OMIM:619234 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Spinal dysraphism, Hallux valgus, Micrognathia, Hip disl... |
OMIM:114290 |
| Neurofibromatosis Type 1 |
|
Genu varum, Genu valgum, Precocious puberty, Multiple lipomas, Recurrent fractures, Short stature... |
ORPHA:636 |
| Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Flared iliac wing, Camptodactyly, Hip dislocation, Hyp... |
OMIM:252500 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Mandibular condyle hypoplasia, Ambiguous genitalia, female, Micro... |
ORPHA:2975 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida, Cryptorchidism, Omphalocele, Uterus didelphys, Ureteral duplicati... |
ORPHA:1756 |
| Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Limitation of ... |
OMIM:211350 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... |
OMIM:274000 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Micrognathia, Hip dislocation, Biliary tract abnormality, Metatarsus adductus... |
OMIM:194190 |
| Galloway-Mowat Syndrome 3 |
|
Short stature, Camptodactyly, Failure to thrive, Intrauterine growth retardation, Hiatus hernia, ... |
OMIM:617729 |
| Gitelman Syndrome |
|
Parathyroid adenoma, Pericardial effusion, Neoplasm of the pancreas, Graves disease, Palpitations... |
ORPHA:358 |
| Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:293939 |
| Neuroleptic Malignant Syndrome |
|
Hyperhidrosis, Hypothermia, Fever |
ORPHA:94093 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Hyperalaninemia, Failure to thrive, Hypoglycemia, Growth delay, Hepatomegaly, Sp... |
OMIM:252010 |
| Charge Syndrome |
|
Polyhydramnios, Aortic arch aneurysm, Abnormal cardiac septum morphology, Anterior hypopituitaris... |
ORPHA:138 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Aminoaciduria, Systolic heart murmur, Micrognathia, Elevated hepatic... |
OMIM:619991 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Tapered finger, Short femoral neck, Short stature, Patellar dislocation... |
OMIM:618395 |
| Meckel Syndrome 12 |
|
Micrognathia, Arrhinencephaly, Arthrogryposis multiplex congenita, Oligohydramnios, Ureteral hypo... |
OMIM:616258 |
| Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Ambiguous genitalia, Absent thumb, Flexion contracture, Micrognathia, Hy... |
OMIM:263650 |
| Fryns Syndrome |
|
Polyhydramnios, Camptodactyly, Aplasia of the left hemidiaphragm, Rocker bottom foot, Ventricular... |
OMIM:229850 |
| Lesch-Nyhan Syndrome |
|
Hyperuricemia, Megaloblastic anemia, Short stature, Hip dislocation, Podagra, Testicular atrophy,... |
OMIM:300322 |
| Fryns Syndrome |
|
Polyhydramnios, Vesicoureteral reflux, Multicystic kidney dysplasia, Abnormal aortic morphology, ... |
ORPHA:2059 |
| Kabuki Syndrome 2 |
|
Decreased body weight, Short stature, Neonatal hypoglycemia, Intrauterine growth retardation, Pos... |
OMIM:300867 |
| Menkes Disease |
|
Hypothermia, Hypoglycemia |
ORPHA:565 |
| Optic Pathway Glioma |
|
Precocious puberty, Growth delay |
ORPHA:2086 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... |
ORPHA:2502 |
| Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Micrognathia, Secundum atrial septal defect, Camptodactyly, Metatarsus a... |
OMIM:249420 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Intrauterine growth retardation, Hypoalbuminemia |
ORPHA:255249 |
| Fucosidosis |
|
Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, M... |
ORPHA:2795 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Hydronephrosis, Ambiguous genitalia, Tracheobronchomalacia, Recurrent fractures... |
ORPHA:140 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Genu valgum, Short 5th finger, Short foot, Small hand, Short stature, Micrognathia, Clinodactyly ... |
OMIM:618443 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Micrognathia, Disproportionate tall stature, Growth delay, Decreased body mass index... |
OMIM:615668 |
| Townes-Brocks Syndrome 1 |
|
Hypothyroidism, 2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsa... |
OMIM:107480 |
| Woolly Hair Nevus |
|
Precocious puberty, Brachydactyly |
ORPHA:79414 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Congenital posterior urethral valve, Dislocated radial head, Avascular necros... |
ORPHA:2044 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Hypoplastic ischi... |
OMIM:614524 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentration, Compensated... |
ORPHA:209905 |
| Snakebite Envenomation |
|
Neuromuscular dysphagia, Hypotension, Cerebral ischemia, Acute kidney injury, Pseudobulbar paraly... |
ORPHA:449285 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Micrognathia, Joint stiffness, Syndactyly, Hypospadias, Attention defic... |
OMIM:618820 |
| Bardet-Biedl Syndrome 21 |
|
Elevated hepatic transaminase, Horseshoe kidney, Overweight, Postaxial hand polydactyly, Obesity |
OMIM:617406 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Broad foot, Toe syndactyly, Supernumerary nipple, Hepato... |
ORPHA:373 |
| Rett Syndrome |
|
Increased serum leptin, Agitation, Failure to thrive, Cholecystitis, Hyperammonemia, Increased se... |
ORPHA:778 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Gonadotropin deficiency, Decrease... |
OMIM:610978 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu... |
OMIM:146255 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Supernumerary nipple, Contracture of the proximal interphalangeal joint of the 4th toe |
ORPHA:457279 |
| Peters-Plus Syndrome |
|
Polyhydramnios, Broad foot, Decreased body weight, Micrognathia, Hypoplastic labia majora, Biliar... |
OMIM:261540 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Biliary cirrhosis, Primary adrenal insufficiency, Graves disease, Aplasia/Hypoplasia of the splee... |
ORPHA:227990 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Biliary cirrhosis, Primary adrenal insufficiency, Graves disease, Aplasia/Hypoplasia of the splee... |
ORPHA:227982 |
| Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Short stature, Pineal c... |
ORPHA:98908 |
| Phakomatosis Pigmentokeratotica |
|
Hyperhidrosis, Precocious puberty, Spina bifida, Hemiatrophy, Raynaud phenomenon, Pheochromocytom... |
ORPHA:2874 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short long bone, Short ribs, Micr... |
OMIM:156400 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Adrenal insufficiency, Pericardial effusion, Elevated circulating cr... |
ORPHA:99827 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Abnormal aortic valve morphology, Hand polydactyly, A... |
ORPHA:261197 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Tapered finger, Clinodactyly of the 5th finger, Sandal gap, Tall stature, Obesity |
OMIM:618430 |
| Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Genu valgum, Hypoplastic acetabulae, Broad femoral neck, Coxa vara, Wide p... |
ORPHA:239 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Slender finger, Truncal obesity |
OMIM:613192 |
| Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Cachexia, Elevated hepatic transaminase, Pri... |
ORPHA:275761 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Hypoplastic iliac wing, Short toe, Flexion contracture, Short foot, Shor... |
OMIM:611717 |
| Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... |
OMIM:610829 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Flexion contracture, Short 5th metacarpal, Large tarsal bones, Short lon... |
OMIM:215150 |
| Cenani-Lenz Syndrome |
|
Hypothyroidism |
ORPHA:3258 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Thin bony cortex, Coxa valga, Wide anterior fontanel, Short tubular bones of ... |
ORPHA:85184 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia, Umbilical hernia |
OMIM:614501 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Short stature, Joint hypermobility, Oligohydramnios, Obesity, Craniosynostosis |
OMIM:619056 |
| Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Broad phalanges of the hand, Ventricular septal defect, Short metacarpal, Short... |
OMIM:608328 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism |
OMIM:618922 |
| X-Linked Intellectual Disability, Snyder Type |
|
Arachnodactyly, Recurrent fractures, Short stature, Slender toe, Camptodactyly, Disproportionate ... |
ORPHA:3063 |
| Xylt1-Cdg |
|
Coxa valga, Short femoral neck, Short long bone, Clinodactyly, Flared metaphysis, Broad thumb, He... |
ORPHA:370930 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... |
OMIM:134780 |
| Marburg Hemorrhagic Fever |
|
Jaundice, Hypokalemia, Elevated hepatic transaminase, Elevated circulating creatine kinase concen... |
ORPHA:99826 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Aortic atherosclerotic lesion, Accelerated atherosclerosis, Hepatitis, Cholesterol gallstones, Ob... |
ORPHA:209902 |
| Early-Onset Schizophrenia |
|
Cognitive impairment, Decreased female libido, Decreased male libido, Addictive behavior, Attenti... |
ORPHA:96369 |
| Alkaptonuria |
|
Aminoaciduria, Cartilage destruction, Prostatitis, Arthritis, Calcification of cartilage, Joint s... |
ORPHA:56 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Anemia, Patent foramen ovale, Short stature, Elliptocytosis, Micrognathia, Talipe... |
OMIM:300990 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Bulimia, Aortic regurgitation, Mitral regurgitation, Overweight,... |
OMIM:614651 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Short long bone, Micrognathia, Single umbilical artery, Micromelia, Severe short stature, Disprop... |
OMIM:224410 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
| Carpenter Syndrome 2 |
|
Camptodactyly, Supernumerary nipple, Talipes equinovarus, Tricuspid regurgitation, Shawl scrotum,... |
OMIM:614976 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Polyhydramnios, Obesity |
ORPHA:521390 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothyroidism, Precocious puberty, Decreased serum iron, Dysphagia, Nephrolithiasis, Vesicourete... |
ORPHA:438213 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
| Peters Plus Syndrome |
|
Polyhydramnios, Abnormal cardiac septum morphology, Anterior hypopituitarism, Toe syndactyly, Mic... |
ORPHA:709 |
| Ethylene Glycol Poisoning |
|
Hypothermia |
ORPHA:31826 |
| Halothane Hepatitis |
|
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity |
OMIM:234350 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Insulin resistance, Polycystic ovaries, Insulin-res... |
ORPHA:90301 |
| Galloway-Mowat Syndrome 1 |
|
Short stature, Joint contracture of the hand, Small for gestational age, Camptodactyly, Intrauter... |
OMIM:251300 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Disproportionate short-trunk short stature, ... |
ORPHA:93315 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Precocious puberty, Ankle clonus, Quadriceps muscle atrophy,... |
ORPHA:845 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, Elevate... |
OMIM:615418 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Short... |
OMIM:269250 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Recurrent fractures, Micrognathia, Joint laxity, Femoral bowing, Joint hypermob... |
OMIM:617952 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Ambiguous genitalia, female, Bicornuate uterus, Mitral valve prolapse, Inc... |
OMIM:606408 |
| Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia |
OMIM:233100 |
| 17Q11 Microdeletion Syndrome |
|
Precocious puberty, Thickened cortex of long bones, Osteolysis, Hypertrophic cardiomyopathy, Bowi... |
ORPHA:97685 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism |
OMIM:619147 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
| Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Wide anterior fontanel, A... |
OMIM:194080 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Renal salt wasting, Failu... |
OMIM:264350 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Cutaneous finger syndactyly, Hip dysplasia, Broad hallux, Pes cavus, Attention def... |
OMIM:616078 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hyperuricemia, Attention deficit hyperactivity disorder, Arachnodactyly, P... |
ORPHA:261222 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Hyperuricemia, Aplastic clavicle, Recurrent fractures, Apl... |
ORPHA:2769 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Coxa valga, Patellar dislocation, Abnormal cardiac septum morphology, Micrognathia, Hip dislocati... |
ORPHA:3320 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1812 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hypothyroidism, Abnormal pineal melatonin secretion |
ORPHA:69665 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Micrognathia, Hip disloc... |
OMIM:268305 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Short stature, Fixed elbow flexion, Micrognath... |
ORPHA:166016 |
| White-Kernohan Syndrome |
|
Hypothyroidism, Hip dysplasia, Hydroureter, Obesity, Joint laxity, Attention deficit hyperactivit... |
OMIM:619426 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypothyroidism, Hyperthyroidism, Diabetes mellitus, Glucose intolerance, Goiter |
ORPHA:254892 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypothermia, Fever |
ORPHA:255210 |
| Cowden Syndrome |
|
Cognitive impairment, Enlarged polycystic ovaries, Adenoma sebaceum, Short stature, Endometrial c... |
ORPHA:201 |
| Aspartylglucosaminuria |
|
Macroorchidism, Aspartylglucosaminuria, Arthritis, Abnormal cortical bone morphology, Pes planus,... |
ORPHA:93 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Scarring, Atrophic scars, Failure to thrive, Growth delay, Hypoalbuminemia |
ORPHA:79396 |
| X-Linked Intellectual Disability, Hedera Type |
|
Hyporeflexia of lower limbs, Left ventricular hypertrophy, Calcaneovalgus deformity, Absent Achil... |
ORPHA:93952 |
| Chromosome 17Q12 Deletion Syndrome |
|
Pica, Micrognathia, Elevated hepatic transaminase, Ovarian cyst, Short palm, Unicornuate uterus, ... |
OMIM:614527 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Growth delay, Thrombocy... |
OMIM:613987 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Increas... |
ORPHA:90652 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short long bone, Femoral bowing, Syndactyly, Failure to thrive, Preaxial polydactyly, Acetabular ... |
OMIM:615503 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hepatic fibrosis, Hydrops fetalis, Short stature, Short long bone, Short ribs, Polyc... |
OMIM:614091 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Long hallux, Obesity, Tapered finger |
OMIM:619854 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... |
ORPHA:288 |
| Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Wide anterior fontanel, Ventricular septal defe... |
OMIM:222448 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Short stature, Atrial septal defect, Cong... |
OMIM:309801 |
| Xq21 Microdeletion Syndrome |
|
Ankle clonus, Decreased response to growth hormone stimulation test, Abnormality of the Achilles ... |
ORPHA:1435 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Short foot, Joint contracture of the hand, Short long bone, Small hand... |
OMIM:228520 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Abnormal left ventricular function, Palpitations, Hyperhidrosis, Elevat... |
ORPHA:892 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Sarcoidosis |
|
Hypothyroidism, Diabetes insipidus, Hyperthyroidism, Hypothermia, Fever, Parotitis, Abnormality o... |
ORPHA:797 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Asplenia, Atrioventricular canal defect, Micrognathia, Nonimmune hydrops fetalis,... |
OMIM:265380 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Obesity, Abnormal dental enamel morphology, Sandal gap, Brachydactyly |
ORPHA:2180 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hypotension, Adrenocorticotropic hormone excess, Heart murmur, Increased serum serotonin, Elevate... |
ORPHA:100079 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Exstrophy-Epispadias Complex |
|
Absent penis, Male sexual dysfunction, Bifid uterus, Abnormality of the ureter, Bifid penis, Vesi... |
ORPHA:322 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Overlapping toe, Broa... |
OMIM:154400 |
| Koolen-De Vries Syndrome |
|
Hypothyroidism |
ORPHA:96169 |
| Oculoskeletodental Syndrome |
|
Hypothyroidism |
OMIM:618440 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Absent thumb, Wrist flexion contracture, Tetraphocomelia, Elbow flexion contractu... |
OMIM:268300 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Short stature, Arrhinencephaly, Vaginal atresia, Attention deficit hyperactivi... |
OMIM:617914 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Camptodact... |
OMIM:224400 |
| Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Hydrops fetalis, Hypoplasia of the thymus, Stiff neck, Ventricular septa... |
OMIM:617022 |
| Megalocornea-Mental Retardation Syndrome |
|
Primary hypothyroidism, Hypercholesterolemia |
OMIM:249310 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Leukopenia, Neutrophilia, Shock, Diabetes mellitus, Elevated circulating C-reactive ... |
ORPHA:36238 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypothyroidism, Heat intolerance, Recurrent fever |
ORPHA:453499 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
| Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis with toxic multi... |
ORPHA:79102 |
| Ring Chromosome 12 Syndrome |
|
Hypothyroidism |
ORPHA:1439 |
| Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism |
OMIM:603736 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca... |
ORPHA:100080 |
| Acrofacial Dysostosis, RodrĆguez Type |
|
Finger syndactyly, Arrhinencephaly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic gir... |
ORPHA:1788 |
| Diamond-Blackfan Anemia 21 |
|
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Anemia, Short s... |
OMIM:620072 |
| Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Congenital posterior urethral valve, Short m... |
OMIM:136140 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Polycystic kidney dysplasia, Unilateral renal agenesi... |
ORPHA:2237 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Norrie Disease |
|
Uterine rupture, Cachexia, Erectile dysfunction, Failure to thrive, Delayed puberty, Diabetes mel... |
ORPHA:649 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Hematemesis, Thrombocytopenia, Arthritis, Autoimm... |
ORPHA:906 |
| Allan-Herndon-Dudley Syndrome |
|
Abnormality of thyroid physiology |
ORPHA:59 |
| Moderate Hemophilia A |
|
Cartilage destruction, Hip contracture, Synovitis, Hematuria, Limitation of joint mobility, Joint... |
ORPHA:169805 |
| Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Carotid artery stenosis, Anemia, Coronary artery stenosis,... |
ORPHA:31150 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical carcinoma, Neonatal hypoglycemia, Hepatoblastoma, Hepatome... |
OMIM:130650 |
| Angioosteohypertrophic Syndrome |
|
Multiple lipomas, Pulmonary embolism, Cognitive impairment, Finger syndactyly, Cellulitis, Hemihy... |
ORPHA:2346 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Obesity |
OMIM:613464 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Polycystic ovaries, Hepatomegaly, Hypoglycemia |
ORPHA:137675 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Short hallux, Postaxial hand polyd... |
OMIM:304120 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Congenital hypothyroidism, Diabetes mellitus, Elevated circulating thyroid-stimulating hormone co... |
OMIM:610199 |
| Scorpion Envenomation |
|
Ketonuria, Glycosuria, Acute kidney injury, Elevated circulating aspartate aminotransferase conce... |
ORPHA:466677 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating ren... |
OMIM:177735 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... |
OMIM:300106 |
| Acute Liver Failure |
|
Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic transaminase, Ad... |
ORPHA:90062 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Prominent crus of helix |
OMIM:301013 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Short long bone, Hepatosplenomegaly, Bo... |
ORPHA:93352 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Genu valgum, Tapered finger, Long foot, Tall stature, Obesity |
ORPHA:85325 |
| Chromosome 1P35 Deletion Syndrome |
|
Congenital hypothyroidism |
OMIM:617930 |
| Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca... |
ORPHA:100082 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:614114 |
| Myasthenia Gravis |
|
Hyperthyroidism, Glycosuria, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto ... |
ORPHA:589 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Short stature, Abnormal granulocyte morpholog... |
ORPHA:98907 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Sex reversal, Gonadal dysgenesis, male, Hypoplasi... |
OMIM:233420 |
| Mogs-Cdg |
|
Hypothyroidism, Inappropriate antidiuretic hormone secretion |
ORPHA:79330 |
| Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Macroorchidism, Precocious puberty, Tapered finger, Short stature, Reduced subcutaneous adipose t... |
OMIM:619950 |
| Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:1855 |
| Pallister-Killian Syndrome |
|
Short phalanx of finger, Polyhydramnios, Broad foot, Flexion contracture, Micrognathia, Hypoplast... |
OMIM:601803 |
| Interstitial Cystitis |
|
Pollakisuria, Urinary urgency, Abnormality of the menstrual cycle, Abnormal labia morphology, Noc... |
ORPHA:37202 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Hyperphosphatu... |
OMIM:309000 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Finger joint hypermobility,... |
OMIM:130050 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fra... |
ORPHA:98850 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Coxa valga, Decreased body weight, Hallux valgus, Advanced ... |
OMIM:271640 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Small hand, Short stature, Ventricular septal defect, Wolff-Parkinson-White... |
OMIM:614947 |
| Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Hypotension, Hepatic failure, Facial telangiectasia, Weigh... |
ORPHA:100075 |
| Keppen-Lubinsky Syndrome |
|
Polyhydramnios, Flexion contracture, Micrognathia, Failure to thrive, Decreased serum leptin, Gen... |
OMIM:614098 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Early ossification of capital femoral epiphyses, Conjugated hyperbilirub... |
OMIM:208500 |
| Thymic Aplasia |
|
Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
| Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Ambiguous genitalia, Abnormal testis morphology, Abnormality o... |
ORPHA:991 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin l... |
OMIM:203400 |
| Okamoto Syndrome |
|
Polydactyly, Urinary incontinence, Ventricular septal defect, Abnormal mitral valve morphology, H... |
ORPHA:2729 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Broad phalanges of the hand, Ventricular septal defect, Short stature, Broad me... |
OMIM:277600 |
| Monosomy 18Q |
|
Hypothyroidism, Secondary growth hormone deficiency |
ORPHA:1600 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma, Short stature, Hypoalbuminemia |
ORPHA:79076 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Dementia, Pes cavus, Overweight, Dysphagia, Orthostatic hypotension, Mental... |
ORPHA:2822 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Flexion contracture, Hernia, Hepatosplenomegaly |
ORPHA:505248 |
| Isolated Biliary Atresia |
|
Hypothyroidism, Hypopituitarism, Xanthelasma |
ORPHA:30391 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Ketonuria, Inguinal hernia, Hypoglycemia, Hypospadias, Hypergly... |
OMIM:220111 |
| Trichohepatoneurodevelopmental Syndrome |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Recurrent pancreatitis, Steatorrhea |
OMIM:618268 |
| Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short long bone, Short ribs, Epispad... |
OMIM:225500 |
| Gitelman Syndrome |
|
Hypotension, Hypokalemia, Increased circulating renin level, Nocturia, Failure to thrive, Delayed... |
OMIM:263800 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Hypothyroidism, Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, C... |
OMIM:191100 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Neonatal hypoglycemia |
ORPHA:572798 |
| Phocomelia, Schinzel Type |
|
Meningocele, Humeroradial synostosis, Micrognathia, Ectrodactyly, Aplasia/Hypoplasia of the sacru... |
ORPHA:2879 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Limitation of movement at ankles, Abnormal eating behavior, Dysphagia, Obesity |
ORPHA:98794 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Ventricular septal defect, Short finger, Failure to thrive, Br... |
ORPHA:1934 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Congenital hypothyroidism |
ORPHA:2519 |
| Ulbright-Hodes Syndrome |
|
Humeroradial synostosis, Micrognathia, Phocomelia, Abnormal forearm bone morphology, Postnatal gr... |
ORPHA:3404 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Tapered finger, Attention deficit hyperactivity disorder, Brachydactyly, Obesity |
OMIM:619680 |
| Vascular Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Uterine rupture, Osteolysis, Cigarette-paper scars, Aortic diss... |
ORPHA:286 |
| Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
| Pseudoxanthoma Elasticum |
|
Hypothyroidism |
ORPHA:758 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Ovarian Fibroma |
|
Gonadal calcification, Abnormality of the ovary, Peritonitis, Mesenteric cyst, Ovarian fibroma |
ORPHA:314473 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Hypothyroidism, Urinary bladder sphincter dysfunction, Pollakisuria, Impotence, Hype... |
ORPHA:93256 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| White-Sutton Syndrome |
|
Hyperactivity, Ventral hernia, Short stature, Joint laxity, Inguinal hernia, Congenital diaphragm... |
ORPHA:468678 |
| Acquired Von Willebrand Syndrome |
|
Hypotension, Normocytic anemia, Hypochromic anemia, Hematuria, Intracranial hemorrhage, Epistaxis... |
ORPHA:99147 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Jaundice, Growth delay, Neonatal hypoglycemia |
OMIM:617248 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ambiguous genitalia, Absent or minimally ossified vertebral bodies, Micrognathia, Urethrovaginal ... |
ORPHA:93271 |
| Malakoplakia |
|
Dysuria, Urinary urgency, Abnormality of the menstrual cycle, Hematuria, Urinary bladder inflamma... |
ORPHA:556 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Short femo... |
OMIM:618019 |
| Familial Adenomatous Polyposis |
|
Hypothyroidism, Thyroiditis, Pancreatitis, Pituitary adenoma, Neoplasm of the adrenal gland, Abno... |
ORPHA:733 |
| Martin-Probst Syndrome |
|
Hypothyroidism |
OMIM:300519 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Short stature, Preaxial foot polydactyly, Absent tibia, Mirror image foot po... |
OMIM:119800 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormal foot morphology, Micrognathia, Wolff-Parkinson-White syndrome, Mitral valve prolapse, Cl... |
ORPHA:369950 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Decreased fertility, Ascending tubular aorta aneurysm, Abnormal foot morphology, Osteoarthritis, ... |
ORPHA:285 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hyperhidrosis, Hypothermia, Anhidrosis, Unexplained fevers, Recurrent fever |
ORPHA:642 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Polyhydramnios, Short metacarpal, Short stature, Failure to thrive, Pseudohypoparathyroidism, Sho... |
OMIM:617157 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Vesicoureteral reflux, Mitral atresia, Short stature, Bicornuate uterus, Toe syndactyly, Hypoplas... |
ORPHA:140952 |
| Townes-Brocks Syndrome |
|
Hypothyroidism, Abnormal cardiac septum morphology, Toe syndactyly, Absent toe, Abnormal vagina m... |
ORPHA:857 |
| Aicardi Syndrome |
|
Dilated third ventricle, Precocious puberty, Block vertebrae, Spina bifida, Missing ribs, Hepatob... |
OMIM:304050 |
| Legionnaires Disease |
|
Hypotension, Endocarditis, Cellulitis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia,... |
ORPHA:549 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Ventricular septal defect, Cerebral hemorrhage, Clinodactyly of the 5th finge... |
OMIM:616682 |
| Aicardi Syndrome |
|
Multiple lipomas, Precocious puberty, Small hand, Block vertebrae, Hip dysplasia, Missing ribs, H... |
ORPHA:50 |
| Aicardi-GoutiĆØres Syndrome |
|
Hypothyroidism, Diabetes mellitus, Unexplained fevers |
ORPHA:51 |
| Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Toe syndactyly, Micrognathia, Dysphagia, Abnormal dental enamel morphology, Vesicou... |
ORPHA:2363 |
| Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Decreased body weight, Short stature, Long hallux, Narrow pe... |
OMIM:600002 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... |
OMIM:250220 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Short foot, Joint contracture of ... |
OMIM:231050 |
| Tuberous Sclerosis 2 |
|
Hypothyroidism, Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, Cardiac rhabdomyoma, ... |
OMIM:613254 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism |
OMIM:613673 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism |
OMIM:607944 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Small for gestational age, Hypoplasia of the radius, Micrognathia, Hypoplasia o... |
OMIM:227270 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypothyroidism, Heat intolerance, Recurrent fever, Hyperhidrosis |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypothyroidism, Heat intolerance, Recurrent fever, Hyperhidrosis |
ORPHA:352665 |
| Atelosteogenesis Type Iii |
|
Short tibia, Polyhydramnios, Short tubular bones of the hand, Patellar dislocation, Vertebral hyp... |
ORPHA:56305 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Unilateral brachydactyly, Supernumerary nipple, Syndactyly, Bifid uterus, Abnormal reproductive s... |
ORPHA:1521 |
| Oeis Complex |
|
11 pairs of ribs, Absent scrotum, Myelomeningocele, Vesicovaginal fistula, Ambiguous genitalia, f... |
OMIM:258040 |
| Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Obesity, Dysphagia |
ORPHA:411511 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Central hypothyroidism |
OMIM:300998 |
| Duplication Of Urethra |
|
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Bifid scrotum, Dysuria, ... |
ORPHA:237 |
| Interstitial Lung And Liver Disease |
|
Hypothyroidism |
OMIM:615486 |
| Isolated Exencephaly |
|
Polyhydramnios, Maternal fever in pregnancy, Anterior pituitary hypoplasia, Maternal diabetes, Po... |
ORPHA:563612 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Hematemesis, Increas... |
ORPHA:100076 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Frontotemporal dementia, Agitation, Polyphagia, Disinhibition, Memory impairment, Progressive lan... |
OMIM:607485 |
| Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Pancreatitis, Hyperlipidemia |
ORPHA:1830 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Toe syndactyly, Camptodactyly of toe, Sandal gap, Obesity, Craniosynos... |
ORPHA:251038 |
| 6Q Terminal Deletion Syndrome |
|
Talipes calcaneovalgus, Hallux valgus, Phimosis, Micrognathia, Clinodactyly, Aplasia/Hypoplasia o... |
ORPHA:75857 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Postaxial hand polydactyly, Uterus didelphys, Split hand |
OMIM:146160 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Congenital hypothyroidism, Thyroid hypoplasia |
ORPHA:521445 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Hypothyroidism |
ORPHA:457212 |
| Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Anemia, Hypokalemia, Decreased circulating cortisol level, Hypertension, Decreased u... |
OMIM:611489 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Hypothyroidism, Thyroid hypoplasia, Thyroid agenesis, Thyroid dysgenesis, Ectopic thyroid |
ORPHA:3047 |
| Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Anemia, Short stature, Transient hypophosphatemia, Small for gestational age, ... |
OMIM:127000 |
| Fraser Syndrome |
|
Urethral atresia, Ambiguous genitalia, Multicystic kidney dysplasia, Wide pubic symphysis, Finger... |
ORPHA:2052 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Extrahepatic cholestasis, Hepatic failure, Weight loss, Arterial occlusion, Cardioge... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Hypotension, Extrahepatic cholestasis, Hepatic failure, Weight loss, Arterial occlusion, Cardioge... |
ORPHA:100077 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Hypoplastic labia majora, Dislocated radial head, Radial deviation of finger, Short... |
OMIM:180700 |
| Lymphatic Malformation 6 |
|
Hypothyroidism |
OMIM:616843 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
| Encephalocraniocutaneous Lipomatosis |
|
Osteolysis, Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst |
ORPHA:2396 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Hemolytic-uremic syndrome, Osteomyelitis, Short stature, Impaired neutrop... |
ORPHA:2968 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Wide pubic symphysis, Encephalocele, Myelomeningocele, Bicornuat... |
OMIM:219000 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Polyhydramnios, Micrognathia, Camptodactyly, Spina bifida occulta, Sc... |
OMIM:300373 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Dilatation of renal calices, Branchial anomaly, Brachydactyly, Pes valgus, Truncal obesity, Atten... |
ORPHA:466950 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Compensated hypothyroidism |
ORPHA:247691 |
| Momo Syndrome |
|
Short sternum, Overgrowth, Obesity, Long foot |
OMIM:157980 |
| Cranioectodermal Dysplasia 1 |
|
Stage 1 chronic kidney disease, Malformation of the hepatic ductal plate, Radial deviation of fin... |
OMIM:218330 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity, Pes planus |
OMIM:611936 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Fever |
OMIM:615846 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Lupus anticoagulant, Increased HDL cholesterol concentration, Abnormal left ventricular function,... |
ORPHA:70591 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Aminoaciduria, Pulmonary hemorrhage, Recurrent fractures, Short stature, Stag... |
OMIM:222700 |
| Juvenile Nephropathic Cystinosis |
|
Glycosuria, Hypothyroidism |
ORPHA:411634 |
| Familial Hypoaldosteronism |
|
Hypotension, Decreased circulating aldosterone level, Hypovolemia, Adrenal insufficiency, Hyperka... |
ORPHA:427 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Short stature, Asymmetric radi... |
OMIM:171480 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
| Diphallia |
|
Absent thumb, Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal f... |
ORPHA:227 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Thyroiditis, Type I diabetes mellitus, Delayed puberty, Abnormality of the endocrine system, Prim... |
ORPHA:391487 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Polyhydramnios, Asplenia, Atrioventricular canal defect, Hepatomegal... |
OMIM:306955 |
| Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Micrognathia, Cardiac arrest, Uterine rupture, Aortic aneurysm, Aortic d... |
ORPHA:60030 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Hyperhidrosis, Stiff neck, Renal insufficiency, Myocarditis, Fulminant h... |
ORPHA:319213 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Congenital hypothyroidism, Palmoplantar hyperhidrosis |
OMIM:617527 |
| Classical Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Patellar dislocation, Incisional hernia, Hip dislocation, Dislocated radial... |
ORPHA:287 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Chronic myelomonocytic leukemia, Tachycardia, Hepatomegaly, ... |
ORPHA:98849 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma |
ORPHA:276399 |
| Sepsis In Premature Infants |
|
Hypotension, Splenomegaly, Anemia, Decreased body weight, Caesarian section, Decreased liver func... |
ORPHA:90051 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism |
OMIM:300912 |
| Lumbar Syndrome |
|
Vesicoureteral reflux, Ambiguous genitalia, Myelomeningocele, Bifid scrotum, Spina bifida, Hypopl... |
ORPHA:83628 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension, Urinary incontinence, Urinary urgency |
OMIM:156310 |
| Angelman Syndrome |
|
Hyperactivity, Obesity |
OMIM:105830 |
| Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
| Scleromyxedema |
|
Abnormality of thyroid physiology |
ORPHA:167635 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, M... |
ORPHA:3144 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Flexion contracture, Tapered finger, Short stature, Micronodular cirrhosis, Limb... |
OMIM:301072 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Short stature... |
ORPHA:988 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Diabetic ketoacidosis, Shock, Pancreatitis, Vasculitis |
ORPHA:70578 |
| Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Cardiac rhabdomyoma, Micrognathia, Clinodactyly of the 5th finger, Attention ... |
OMIM:618971 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypothyroidism |
ORPHA:1556 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Thin bony cortex, Ventricular septal defect, Short stature, Short palm, 3-4 f... |
OMIM:619727 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Dilated third ventricle, Obesity |
OMIM:617296 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss, Hepatitis, Elevated circulating C-reactive protein concentration, Hypernatremia, Spl... |
OMIM:619381 |
| Hallermann-Streiff Syndrome |
|
Hypothyroidism |
ORPHA:2108 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Hypothyroidism |
OMIM:620005 |
| Bilateral Polymicrogyria |
|
Central hypothyroidism |
ORPHA:268940 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the vagina, Bifid scrotum, Cutaneous finger syndactyly, Hypoplastic labia majora, D... |
OMIM:119500 |
| Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus |
ORPHA:84064 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Obesity, Pes valgus, Attention deficit hyperactivity disorder, Pelvi... |
ORPHA:466943 |
| Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Intervertebral disc degeneration, Aortic dissection, Dilatation of the s... |
ORPHA:284984 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Hypothyroidism |
ORPHA:1052 |
| Costello Syndrome |
|
Failure to thrive, Hypoglycemia, Short stature, Achilles tendon contracture |
OMIM:218040 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Precocious puberty, Rhizomelia, Recurrent patellar dislocation, Hypospadias, ... |
OMIM:615877 |
| Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent ura... |
OMIM:618280 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... |
OMIM:607634 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Acute kidney injury, Jaundice, Neutro... |
ORPHA:91547 |
| Kinsship Syndrome |
|
Polydactyly, Coxa valga, Short stature, Death in infancy, Micrognathia, Hip dislocation, Dislocat... |
OMIM:619297 |
| Perry Syndrome |
|
Hypotension, Dementia, Weight loss |
ORPHA:178509 |
| Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Hypotension, Short stature, Micrognathia, Telangiectasia of the skin, Cl... |
ORPHA:2135 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Thin bony cortex, Slender long bone, Micrognathia, Large for gestational age, Hypopl... |
OMIM:612731 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Polycythemia, Pheochromocytoma, Epididymal cyst, Hype... |
OMIM:193300 |
| Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Elevated hepatic transami... |
ORPHA:340 |
| Cutaneous Mastocytoma |
|
Hypotension, Lymphadenopathy, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Polyhydramnios, Splenomegaly, Atrioventricular canal defect, Postaxial polydactyly, Short stature... |
OMIM:617088 |
| Carney Complex, Type 1 |
|
Thyroid carcinoma, Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Cardiac myxoma,... |
OMIM:160980 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Cystinosis, Nephropathic |
|
Hypohidrosis, Glycosuria, Male hypogonadism, Diabetes mellitus, Delayed puberty, Exocrine pancrea... |
OMIM:219800 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Camptodactyly, Broad hallux, ... |
OMIM:612474 |
| Chromosome 22Q13 Duplication Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia |
OMIM:615538 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia, Class III obesity |
OMIM:616418 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Pedal edema, Weight loss, Pericarditis, Oliguria, Leukocytosis, Arrhythmia, Renal in... |
ORPHA:188 |
| Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Slender build, Large for gestational age, Neonatal hypoglycemia |
ORPHA:457359 |
| Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Hip osteoarthritis, Camptodactyly, Ascending aortic d... |
OMIM:613795 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Broad femoral neck, Small hand, Distal shortening of limbs, Thickened cortex of long bones, Spina... |
ORPHA:488434 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Knee flexion contracture, Short phalanx of finger, Hip subluxation, Triangular shaped distal phal... |
OMIM:271665 |
| Infantile Nephropathic Cystinosis |
|
Glycosuria, Abnormality of thyroid physiology |
ORPHA:411629 |
| Semilobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
ORPHA:93924 |
| Cerebrotendinous Xanthomatosis |
|
Hypothyroidism |
ORPHA:909 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of thyroid physiology |
OMIM:300968 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Elevated circulating growth hormone concentration, Pituitary adenoma |
OMIM:300943 |
| Reactive Arthritis |
|
Cartilage destruction, Osteomyelitis, Enthesitis, Arthritis, Joint stiffness |
ORPHA:29207 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Obesity, Prolonged neonatal jaundice, Hepatomegaly |
OMIM:612291 |
| Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis, Decreased level of plas... |
ORPHA:722 |
| Mastocytosis |
|
Hypotension, Recurrent fractures, Telangiectasia of the skin, Mastocytosis, Osteoporosis, Hyperca... |
ORPHA:98292 |
| Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Spina bifida occulta, Hypospadias, Bifid uter... |
OMIM:617466 |
| Serotonin Syndrome |
|
Hypotension, Hyperhidrosis, Hepatic failure, Acute kidney injury, Hypertension, Agitation, Mental... |
ORPHA:43116 |
| Holoprosencephaly 1 |
|
Diabetes insipidus, Hypoglycemia, Short stature, Adrenal hypoplasia |
OMIM:236100 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve, Rectovaginal fistula, Precocious puberty, Unilateral rena... |
OMIM:608980 |
| Bartter Syndrome, Type 3 |
|
Hypotension, Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Renal salt wasti... |
OMIM:607364 |
| Scrub Typhus |
|
Hypotension, Hyperhidrosis, Lymphadenopathy, Renal insufficiency, Myocarditis, Splenomegaly |
ORPHA:83317 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Acute kidney injury, Hyperbilirubinemia,... |
ORPHA:542323 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
| Down Syndrome |
|
Hypothyroidism |
OMIM:190685 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism |
OMIM:271510 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Rhizomeli... |
OMIM:228900 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloprolife... |
ORPHA:79456 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Dengue Fever |
|
Hypotension, Leukopenia, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Hepatomegaly, Gastroint... |
ORPHA:99828 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia, Splenomegaly, Hepatomegaly, Hypoalbuminemia |
ORPHA:75565 |
| Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, Elevated circu... |
ORPHA:90068 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uterus |
ORPHA:2736 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Congenital hypothyroidism |
OMIM:616973 |
| Gabriele-De Vries Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:506358 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Short stature, Truncal obesity |
OMIM:617547 |
| Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension, Xerostomia, Hyponatremia, Dysphagia |
ORPHA:178478 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Hypohidrosis, Hyperactivity, Clinodactyly of the 5th finger, Recurrent pye... |
ORPHA:48652 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Congenital hypothyroidism, Anterior pituitary agenesis, Neonat... |
ORPHA:2255 |
| Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Hypothyroidism |
OMIM:300166 |
| Poliomyelitis |
|
Hypotension, Stiff neck, Hypertension, Agitation, Hypovolemic shock, Absent tonsils, Dysphagia |
ORPHA:2912 |
| Coffin-Siris Syndrome 12 |
|
Hypothyroidism |
OMIM:619325 |
| Hellp Syndrome |
|
Hypotension, Placental abruption, Hemolytic anemia, Cerebral hemorrhage, Acute kidney injury, Hem... |
ORPHA:244242 |
| Currarino Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Bicornuate uterus, Neurogenic bladder, Absence of th... |
OMIM:176450 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... |
OMIM:145600 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Tachycardia, Bradycardia, Premature birth |
ORPHA:70587 |
| Sotos Syndrome |
|
Hypothyroidism, Bilateral camptodactyly, Flexion contracture, Hip contracture, Hydrocele testis, ... |
ORPHA:821 |
| Johanson-Blizzard Syndrome |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Diabetes mellitus |
OMIM:243800 |
| Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Hypothyroidism, Anterior hypopituitarism, Abnormality of the hypothalamus-pi... |
OMIM:607932 |
| Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Rheumatoid ar... |
ORPHA:95459 |
| Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... |
ORPHA:97292 |
| Colchicine Poisoning |
|
Hypotension, Renal insufficiency, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, ... |
ORPHA:31824 |
| Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Streak ovary |
ORPHA:798 |
| Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Renal tubular acidosis, Hypotension |
ORPHA:79155 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
| 1P21.3 Microdeletion Syndrome |
|
Micrognathia, Obesity, Joint hypermobility, Abnormal eating behavior |
ORPHA:293948 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Hypotension, Anemia, Hyperuricemia, Stage 5 chronic kidney disease,... |
OMIM:174000 |
| Mercury Poisoning |
|
Hypotension, Acute kidney injury, Hypokalemia, Hypertension, Tachycardia |
ORPHA:330021 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Hyperphosphatemia, Congestive heart failure, Arrhythmia, Reduced bone mineral densit... |
ORPHA:428 |
| Inhalational Anthrax |
|
Hypotension, Abnormal sweat gland morphology, Internal hemorrhage |
ORPHA:247257 |
| Ring Chromosome 13 Syndrome |
|
Primary hypothyroidism |
ORPHA:96176 |
| 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 |
| Viss Syndrome |
|
Hypothyroidism |
OMIM:619472 |
| Doors Syndrome |
|
Congenital hypothyroidism, Adrenal hyperplasia |
ORPHA:79500 |
| Kabuki Syndrome 1 |
|
Congenital hypothyroidism, Premature thelarche |
OMIM:147920 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hyperphosphatemia, Hepatic failure, Acute kidney injury, Sinus tach... |
ORPHA:466650 |
| Renal Tubular Dysgenesis |
|
Hypotension, Anuria, Oligohydramnios |
OMIM:267430 |
| Hereditary Angioedema Type 1 |
|
Hypotension, Dysphagia |
ORPHA:100050 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Hepatitis, Acute kidney injury, Jaundice, ... |
ORPHA:509 |
| Plague |
|
Lymphadenitis, Hypotension, Endocarditis, Arthritis, Tachycardia, Hepatomegaly, Arrhythmia, Hemat... |
ORPHA:707 |
| Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:143890 |
