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Items: 16

1.

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance. [from HPO]

MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
2.

Transient neonatal diabetes mellitus

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients. [from ORDO]

MedGen UID:
798956
Concept ID:
CN207425
Disease or Syndrome
3.

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance. [from HPO]

MedGen UID:
504609
Concept ID:
CN000766
Finding
4.

Transitory neonatal diabetes mellitus

Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset.(NICHD) [from NCI]

MedGen UID:
449530
Concept ID:
C0342273
Disease or Syndrome
5.

Transient neonatal diabetes mellitus

MedGen UID:
446909
Concept ID:
CN007256
Finding
6.

Transient

Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. [from HPO]

MedGen UID:
64403
Concept ID:
C0205374
Temporal Concept
7.

Neonatal diabetes mellitus

Hyperglycemia in the newborn due to a defect in the secretion or function of insulin.(NICHD) [from NCI]

MedGen UID:
57645
Concept ID:
C0158981
Disease or Syndrome
8.

Uniparental Disomy

A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome. [from NCI]

MedGen UID:
181871
Concept ID:
C0949628
Cell or Molecular Dysfunction
9.

DNA Methylation

The process by which methyl groups are added to nucleotides in genomic DNA. [from NCI]

MedGen UID:
138191
Concept ID:
C0376452
Molecular Function
10.

A 300

MedGen UID:
45571
Concept ID:
C0100700
Organic Chemical; Pharmacologic Substance
11.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
12.

Disorder of glucose metabolism

A metabolic disorder characterized by abnormal blood glucose levels. [from NCI]

MedGen UID:
226229
Concept ID:
C1257958
Disease or Syndrome
13.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
14.

Disorder of endocrine system

A non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma. [from NCI]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
15.

Uniparental disomy of 6

MedGen UID:
490196
Concept ID:
CN170858
Disease or Syndrome
16.

Transient neonatal diabetes mellitus 1

6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted locus at 6q24. The cardinal features are: severe intrauterine growth retardation, hyperglycemia that begins in the neonatal period in a term infant and resolves by age 18 months, dehydration, and absence of ketoacidosis. Macroglossia and umbilical hernia are often present. In the subset of children with ZFP57 pathogenic variants, other manifestations can include structural brain abnormalities, developmental delay, and congenital heart disease. Diabetes mellitus usually starts within the first week of life and lasts on average three months but can last longer than a year. Although insulin is usually required initially, the need for insulin gradually declines over time. Intermittent episodes of hyperglycemia may occur in childhood, particularly during intercurrent illnesses. Diabetes mellitus may recur in adolescence or later in adulthood. Women who have had 6q24-TNDM are at risk for relapse during pregnancy. [from GTR]

MedGen UID:
371317
Concept ID:
C1832386
Disease or Syndrome
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