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Items: 10

1.

Phosphoribosylpyrophosphate synthetase superactivity

Phosphoribosylpyrophosphate synthetase (PRS) superactivity is characterized by hyperuricemia and hyperuricosuria and is divided into a severe phenotype with infantile or early-childhood onset and a milder phenotype with late-juvenile or early-adult onset. Variable combinations of sensorineural hearing loss, hypotonia, and ataxia observed in the severe type are not usually present in the mild type. In the mild type, uric acid crystalluria or a urinary stone is commonly the first clinical finding, followed later by gouty arthritis if serum urate concentration is not controlled. [from GeneReviews]

MedGen UID:
370358
Concept ID:
C1970827
Disease or Syndrome
2.

Metabolic induction

The conversion of an exogenous substance by a biological system resulting in the production on an active metabolite. [from MeSH]

MedGen UID:
7561
Concept ID:
C0025513
Molecular Function
3.

Phosphate

PO4(3-). [from CRISP]

MedGen UID:
737350
Concept ID:
C1601799
Element, Ion, or Isotope; Pharmacologic Substance
4.

Neurodevelopmental disorder

Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. [from SNOMEDCT_US]

MedGen UID:
453059
Concept ID:
C1535926
Mental or Behavioral Dysfunction
5.

Prieto X-linked mental retardation syndrome

MedGen UID:
374294
Concept ID:
C1839730
Disease or Syndrome
6.

Purine nucleoside

Purines with a RIBOSE attached that can be phosphorylated to PURINE NUCLEOTIDES. [from MeSH]

MedGen UID:
18775
Concept ID:
C0034136
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
7.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
8.

Disorder of purine and pyrimidine metabolism

Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
48263
Concept ID:
C0034139
Disease or Syndrome
9.

Inborn error of metabolism

A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [from NCI]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
10.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
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