| HPO |
HP:0012028 |
Hepatocellular adenoma |
"A benign tumor of the liver of presumably epithelial origin." [HPO:probinson] |
— |
HP:0002896 |
| HPO |
HP:0040217 |
Elevated hemoglobin A1c |
"An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements." [HPO:probinson, PMID:20042774] |
— |
HP:0011902 |
| HPO |
HP:0000112 |
Nephropathy |
"A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
— |
HP:0012211 |
| HPO |
HP:0008255 |
Transient neonatal diabetes mellitus |
— |
— |
HP:0000857 |
| HPO |
HP:0001738 |
Exocrine pancreatic insufficiency |
"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [HPO:probinson] |
— |
HP:0012092 |
| HPO |
HP:0000121 |
Nephrocalcinosis |
"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [HPO:probinson] |
Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. |
HP:0012210 |
| HPO |
HP:0001943 |
Hypoglycemia |
"A decreased concentration of glucose in the blood." [HPO:curators] |
— |
HP:0011015 |
| HPO |
HP:0000093 |
Proteinuria |
"Increased levels of protein in the urine." [HPO:probinson] |
— |
HP:0020129 |
| HPO |
HP:0003109 |
Hyperphosphaturia |
"An increased excretion of phosphates in the urine." [HPO:curators] |
— |
HP:0012599 |
| 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:0003355 |
Aminoaciduria |
"An increased concentration of an amino acid in the urine." [HPO:SKOEHLER] |
— |
HP:0033354 |
| HPO |
HP:0003537 |
Hypouricemia |
"An abnormally low level of uric acid in the blood." [HPO:curators] |
— |
HP:0002157, HP:0010932 |
| HPO |
HP:0002240 |
Hepatomegaly |
"Abnormally increased size of the liver." [HPO:probinson] |
— |
HP:0003271, HP:0410042 |
| 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:0000819 |
Diabetes mellitus |
"A group of abnormalities characterized by hyperglycemia and glucose intolerance." [HPO:probinson] |
— |
HP:0000818, HP:0001952 |
| HPO |
HP:0002748 |
Rickets |
"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets." [GARD:0005700] |
— |
HP:0004349 |
| 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 |
| HPO |
HP:0004322 |
Short stature |
"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0031284 |
Flushing |
"Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." [] |
Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen. |
HP:0011354 |
| 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:0004904 |
Maturity-onset diabetes of the young |
"The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells." [HPO:probinson] |
— |
HP:0000819 |
| OMIM |
OMIM:616026 |
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4 |
— |
— |
— |
| OMIM |
OMIM:125850 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1 |
— |
— |
— |