| HPO |
HP:0004510 |
Pancreatic islet-cell hyperplasia |
"Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells." [HPO:probinson] |
The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin). |
HP:0006476 |
| HPO |
HP:0001254 |
Lethargy |
"A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [HPO:probinson] |
— |
HP:0004372 |
| HPO |
HP:0001994 |
Renal Fanconi syndrome |
"An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [HPO:probinson] |
— |
HP:0001947, HP:0011038 |
| HPO |
HP:0002344 |
Progressive neurologic deterioration |
— |
— |
HP:0001268 |
| HPO |
HP:0006568 |
Increased hepatic glycogen content |
"An increase in the amount of glycogen stored in hepatocytes compared to normal." [HPO:probinson] |
Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity. |
HP:0500030 |
| HPO |
HP:0000975 |
Hyperhidrosis |
"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [HPO:probinson] |
The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. |
HP:0007550 |
| HPO |
HP:0003584 |
Late onset |
"A type of adult onset with onset of symptoms after the age of 60 years." [HPO:probinson] |
— |
HP:0003581 |
| HPO |
HP:0000855 |
Insulin resistance |
"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson] |
— |
HP:0011014 |
| HPO |
HP:0031819 |
Increased waist to hip ratio |
"Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement." [ORCID:0000-0001-5356-4174, PMID:12872269] |
— |
HP:0031818 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0005978 |
Type II diabetes mellitus |
"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [HPO:probinson] |
Persons with type II diabetes mellitus rarely develop ketoacidosis. |
HP:0000819 |
| HPO |
HP:0001513 |
Obesity |
"Accumulation of substantial excess body fat." [] |
— |
HP:0004324 |
| HPO |
HP:0003074 |
Hyperglycemia |
"An increased concentration of glucose in the blood." [HPO:probinson] |
— |
HP:0011015 |
| HPO |
HP:0025502 |
Overweight |
"Increased body weight with a body mass index of 25-29.9 kg per square meter." [] |
— |
HP:0004324 |
| HPO |
HP:0000825 |
Hyperinsulinemic hypoglycemia |
"An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [HPO:probinson] |
Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. |
HP:0000842 |
| HPO |
HP:0001520 |
Large for gestational age |
"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, HPO:probinson] |
Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. |
HP:0004324 |
| HPO |
HP:0030794 |
Abnormal C-peptide level |
"An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion." [HPO:probinson, PMID:15198367] |
— |
HP:0010876 |
| HPO |
HP:0004924 |
Abnormal oral glucose tolerance |
"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose." [HPO:probinson] |
— |
HP:0040270 |
| HPO |
HP:0000107 |
Renal cyst |
"A fluid filled sac in the kidney." [Eurenomics:fschaefer] |
— |
HP:0012210 |
| HPO |
HP:0002594 |
Pancreatic hypoplasia |
"Hypoplasia of the pancreas." [HPO:probinson] |
Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. |
HP:0100800 |
| HPO |
HP:0000488 |
Retinopathy |
"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [HPO:probinson] |
— |
HP:0000479 |
| HPO |
HP:0001511 |
Intrauterine growth retardation |
"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] |
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. |
HP:0001510 |
| HPO |
HP:0001998 |
Neonatal hypoglycemia |
— |
— |
HP:0001943 |
| HPO |
HP:0040216 |
Hypoinsulinemia |
"A decreased concentration of insulin in the blood." [] |
— |
HP:0040215 |
| HPO |
HP:0003076 |
Glycosuria |
"An increased concentration of glucose in the urine." [HPO:gcarletti] |
Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. |
HP:0033354 |