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Results: 16

1.

2,8-Dihydroxyadenine Urolithiasis

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

Urolithiasis

Formation of stones in any part of the URINARY TRACT, usually in the KIDNEY; URINARY BLADDER; or the URETER. [from MeSH]

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
Disease or Syndrome
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.

Reading (datum presentation)

A datum that is presented to a user by a meter or similar instrument. [from NCI]

MedGen UID:
312545
Concept ID:
C1705179
Finding
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.

Urolith

abnormal concretions occuring within the urinary tract, usually composed of mineral salts. [from CRISP]

MedGen UID:
22577
Concept ID:
C0042018
Finding
14.

Urologic Diseases

Disorders of any part of the urologic system. [from NCI]

MedGen UID:
21791
Concept ID:
C0042075
Disease or Syndrome
15.

Deoxyribonucleases

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

MedGen UID:
8321
Concept ID:
C0011522
Pharmacologic Substance
16.

Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production of and urinary excretion of 2,8-dihydroxyadenine (DHA) leading to kidney stone formation and chronic kidney disease. Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of individuals symptoms do not occur until adulthood. In a significant number of individuals, intratubular precipitation of DHA crystals can result in renal failure (i.e., DHA crystalline nephropathy). [from GeneReviews]

MedGen UID:
82772
Concept ID:
C0268120
Disease or Syndrome

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