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Results: 17

1.

Aspartylglycosaminuria

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002). [from OMIM]

MedGen UID:
78649
Concept ID:
C0268225
Disease or Syndrome
2.

Aspartylglucosaminuria

Excretion of excess amounts of aspartylglucosamine in the urine. [from HPO]

MedGen UID:
506661
Concept ID:
CN167794
Finding
3.

Novel Mutation

A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation. [from NCI]

MedGen UID:
457664
Concept ID:
C2985438
Cell or Molecular Dysfunction
4.

Frameshift Mutation function

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. [from MeSH]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
5.

Baldness, male pattern

Androgenetic alopecia is characterized by a loss of hair from the scalp that follows a defined pattern (Hamilton, 1951). It occurs in women as well as in men. It is caused by a shortening of the anagen (growth) phase and miniaturization of the hair follicle, which results in the formation of progressively thinner, shorter hair (Bergfeld, 1995). In men, the condition is often referred to as male pattern baldness (MPB) and appears to be androgen-dependent (Hamilton, 1942). The condition is hereditary, and follows a pattern that may be consistent with an autosomal dominant trait (Osborn, 1916). Linkage evidence for an autosomal locus on 3q26 (AGA1) has been identified (Hillmer et al., 2008). See 300710 (AGA2) for a discussion of X linkage of androgenetic alopecia. A third locus has been found on chromosome 20p11 (AGA3; 612421). [from OMIM]

MedGen UID:
56404
Concept ID:
C0162311
Disease or Syndrome
6.

Metabolic Diseases

Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) [from MeSH]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
7.

Xicil

MedGen UID:
291380
Concept ID:
C1567630
Pharmacologic Substance
8.

Hespercorbin

MedGen UID:
291379
Concept ID:
C1567629
Pharmacologic Substance
9.

Dona

MedGen UID:
291378
Concept ID:
C1567628
Pharmacologic Substance
10.

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
11.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
12.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
13.

Disorder of lysosomal enzyme

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. [from MeSH]

MedGen UID:
43098
Concept ID:
C0085078
Disease or Syndrome
14.

Glucosamine

amino sugar derivative of glucose, substituted at the 2 position, occurring in glycosaminoglycans and a variety of complex polysaccharides such as blood group substances. [from CRISP]

MedGen UID:
6622
Concept ID:
C0017718
Pharmacologic Substance
15.

Inborn error of metabolism

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6323
Concept ID:
C0025521
Disease or Syndrome
16.

N-Acetylglucosamine

N-acetyl derivative of glucosamine. [from CRISP]

MedGen UID:
1709
Concept ID:
C0001056
Pharmacologic Substance
17.

Aspartylglucosamidase (AGA) deficiency

MedGen UID:
419178
Concept ID:
C2931840
Disease or Syndrome

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