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Items: 14

1.

2,8-Dihydroxyadenine Urolithiasis

MedGen UID:
777095
Concept ID:
C3665382
Disease or Syndrome
2.

Urolithiasis

Stone(s) within the urinary tract. [from NCI_NICHD]

MedGen UID:
141536
Concept ID:
C0451641
Disease or Syndrome
3.

Transposition of the great arteries

MedGen UID:
831520
Concept ID:
CN226897
Disease or Syndrome
4.

Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. [from ORDO]

MedGen UID:
799682
Concept ID:
CN206927
Finding
5.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
6.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
7.

Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production of 2,8-dihydroxyadenine (DHA), which is excreted in the urine, where it is poorly soluble and leads to kidney stone formation and chronic kidney disease (CKD). Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of affected individuals symptoms do not occur until adulthood. In a significant number of individuals, intratubular and interstitial precipitation of DHA crystals can result in kidney failure (i.e., DHA crystal nephropathy). [from GeneReviews]

MedGen UID:
82772
Concept ID:
C0268120
Disease or Syndrome
8.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
9.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
10.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
11.

Pathological Conditions, Anatomical

An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. [from MeSH]

MedGen UID:
155708
Concept ID:
C0752135
Pathologic Function
12.

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
13.

Urologic Diseases

Any disease affecting the urinary system. [from NCI_NICHD]

MedGen UID:
21791
Concept ID:
C0042075
Disease or Syndrome
14.

Deoxyribonucleases

Enzymes which catalyze the hydrolases of ester bonds within DNA. EC 3.1.-. [from MeSH]

MedGen UID:
8321
Concept ID:
C0011522
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
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