| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Isolated Growth Hormone Deficiency, Type Ib |
|
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... |
OMIM:612781 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
| Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
| Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:618723 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis |
ORPHA:88643 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level |
OMIM:311360 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Pancreatitis |
ORPHA:79084 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618117 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... |
OMIM:618086 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
| Tumor Predisposition Syndrome 4 |
|
Stomach cancer |
OMIM:609265 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... |
ORPHA:2494 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabet... |
ORPHA:276580 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:616185 |
| Premature Ovarian Failure 15 |
|
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... |
OMIM:618096 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fastin... |
ORPHA:276575 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level |
OMIM:233300 |
| Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
| Premature Ovarian Failure 2A |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300511 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:617690 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... |
OMIM:619834 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... |
OMIM:619665 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
| Spermatogenic Failure 75 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:619949 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... |
OMIM:618187 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... |
OMIM:615723 |
| Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399805 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... |
OMIM:620103 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Esophageal Ring, Lower |
|
Hiatus hernia, Dysphagia |
OMIM:133240 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi... |
OMIM:246700 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... |
OMIM:273250 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... |
OMIM:620311 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hypoglycemia, Hyp... |
ORPHA:276556 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Premature Ovarian Failure 18 |
|
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... |
OMIM:619203 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
| Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
| Premature Ovarian Failure 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:615724 |
| Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
| 46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno... |
ORPHA:79230 |
| Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Cap Polyposis |
|
Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis |
ORPHA:160148 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... |
OMIM:201400 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:612885 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... |
ORPHA:293964 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Perlman Syndrome |
|
Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:614324 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosu... |
ORPHA:263455 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
| Refractory Celiac Disease |
|
Osteoporosis, Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypop... |
ORPHA:398063 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399808 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology |
ORPHA:281090 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... |
OMIM:616050 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating leptin concentration, Enlarged polycystic ovaries, Insulin... |
ORPHA:2298 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia |
OMIM:618805 |
| Alg6-Cdg |
|
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Neoplasm of the stoma... |
ORPHA:44890 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia |
OMIM:256300 |
| Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach |
ORPHA:618 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... |
OMIM:300048 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Primary hypercortisolism, Paradoxical increased co... |
OMIM:610475 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:614129 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia |
ORPHA:79237 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:613313 |
| Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia, Fasting hy... |
OMIM:246200 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:612310 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612964 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Weight loss |
OMIM:209950 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
| Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:616030 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163971 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Muir-Torre Syndrome |
|
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... |
ORPHA:587 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Polycysti... |
ORPHA:528 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level |
OMIM:202150 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:608104 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
| Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
| Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... |
ORPHA:247353 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... |
OMIM:620303 |
| Leishmaniasis |
|
Hypoalbuminemia, Weight loss |
ORPHA:507 |
| Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
| Immunodeficiency 32B |
|
Failure to thrive, Hypoalbuminemia |
OMIM:226990 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:604250 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300068 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... |
OMIM:617093 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decreased circulating carni... |
ORPHA:89842 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| 46,Xy Sex Reversal 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612965 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... |
OMIM:250790 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... |
ORPHA:769 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight |
ORPHA:1667 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Decreased serum es... |
ORPHA:168563 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Flexion contracture, Hypoalbuminemia |
ORPHA:367 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Hypoalbuminemia |
OMIM:617021 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... |
OMIM:610965 |
| 49,Xxxyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... |
ORPHA:261534 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... |
ORPHA:71212 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level |
OMIM:233400 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Po... |
ORPHA:79086 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... |
OMIM:615234 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral cryptorchidism, In... |
ORPHA:99429 |
| Frasier Syndrome |
|
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... |
ORPHA:347 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Increased circulating gonado... |
ORPHA:755 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Reduced bone mineral density |
ORPHA:848 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Ty... |
OMIM:151660 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, ... |
OMIM:212065 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Failure to thrive, Small for gestational age, Elevated circulating creatine kina... |
OMIM:619055 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Alg12-Cdg |
|
Hyponatremia, Abnormal bone ossification, Abnormal adipose tissue morphology, Hypoalbuminemia, Hy... |
ORPHA:79324 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
| Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hyperbi... |
OMIM:251880 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| 46,Xy Sex Reversal 1 |
|
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... |
OMIM:400044 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
| Isolated Splenogonadal Fusion |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... |
ORPHA:457083 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... |
OMIM:617156 |
| Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
| 49,Xyyyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... |
ORPHA:99330 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoporosis, Hypo... |
OMIM:277900 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hypoalbuminemia, Osteoporosis, Weight loss |
OMIM:619487 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia |
OMIM:613327 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the ovary, Decreased serum estradiol |
OMIM:615300 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoalbuminemia |
OMIM:618329 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
| Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Neoplasm of the... |
ORPHA:512 |
| 46,Xx Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, Streak ovary, Decreased serum estradiol, Delayed puberty |
ORPHA:243 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Inguinal hernia, Small for gestational age, Rickets, Reduced bone mineral density, Hy... |
OMIM:613658 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive |
ORPHA:79396 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:248370 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hyp... |
ORPHA:14 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... |
ORPHA:37042 |
| Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia |
OMIM:617729 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Camptodactyly, Umbilical hernia, Coronal craniosynostosis, Joint contracture of ... |
OMIM:235510 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Hypoalbuminemia |
OMIM:617303 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
| Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis... |
OMIM:222470 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Weig... |
ORPHA:465508 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
| Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased serum estradi... |
ORPHA:90797 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Polycystic ovari... |
OMIM:608594 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i... |
ORPHA:300298 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contracture of th... |
OMIM:251300 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Weight loss |
ORPHA:85443 |
| Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
| Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Elev... |
ORPHA:139507 |
| Leprechaunism |
|
Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronis... |
ORPHA:508 |
| Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer |
OMIM:208060 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Osteoporosis, Reduced bone mineral density, Abnormality of iron homeostasis, Elevated... |
ORPHA:231222 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Acute pancreatitis, Decreased serum leptin, Hyperinsulinemia, Polycystic ovaries, Insulin-resista... |
OMIM:269700 |
| Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
| Testicular Agenesis |
|
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... |
ORPHA:325124 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
| Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
| Atypical Werner Syndrome |
|
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79474 |
| Pallister-Hall Syndrome |
|
Decreased testicular size, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticot... |
ORPHA:672 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| 47,Xyy Syndrome |
|
Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Increased serum testost... |
ORPHA:8 |
| Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Hypoalbuminemia, Subcutaneous lipoma |
ORPHA:79076 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
| 46,Xx Sex Reversal 1 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:400045 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:2232 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hypoalbuminemia, Hernia |
ORPHA:505248 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... |
ORPHA:251510 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Hypoalbuminemia, Osteoporosis, Weight loss |
ORPHA:171 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
| Turner Syndrome |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
| Mosaic Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
| Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia... |
OMIM:619381 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Gastric ulcer, Constipation, Malabsorption |
ORPHA:3463 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
| African Trypanosomiasis |
|
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... |
ORPHA:3385 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Vomiting, Congenital pyloric atresia |
ORPHA:158684 |
| Dominant Beta-Thalassemia |
|
Osteoporosis, Failure to thrive in infancy, Abnormality of iron homeostasis |
ORPHA:231226 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... |
ORPHA:309854 |
| Smith-Lemli-Opitz Syndrome |
|
Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, H... |
OMIM:270400 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Hematemesis, Celiac disease, Esophageal varix, Bilater... |
OMIM:301068 |
| Beta-Thalassemia Major |
|
Osteoporosis, Failure to thrive in infancy, Abnormality of iron homeostasis |
ORPHA:231214 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level |
OMIM:110100 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... |
OMIM:619534 |
| Williams Syndrome |
|
Colonic diverticula, Peptic ulcer, Malabsorption, Cryptorchidism, Rectal prolapse, Abnormal gastr... |
ORPHA:904 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:572333 |
| Syndromic Diarrhea |
|
Inguinal hernia, Small for gestational age, Abnormality of iron homeostasis |
ORPHA:84064 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Abnormal circulating thyroid hormone concentration, Hydrocele testis, Hyperi... |
OMIM:619991 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Increased circ... |
ORPHA:1772 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Cachexia |
ORPHA:75565 |
| Alström Syndrome |
|
Decreased testicular size, Precocious puberty in females, Decreased response to growth hormone st... |
ORPHA:64 |
| Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
| Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
