Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 46

1.

Corpus callosum agenesis

The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis. [from GTR]

MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality; Finding
2.

Agenesis

A congenital abnormality resulting in the absence of an anatomical structure. [from NCI]

MedGen UID:
7816
Concept ID:
C0000846
Congenital Abnormality
3.

Adrenal insufficiency

Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS. [from MeSH]

MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
4.

Sex reversal

Development of the reproductive system is inconsistent with the chromosomal sex. [from HPO]

MedGen UID:
868596
Concept ID:
C4022995
Finding
5.

Agenesis of corpus callosum

MedGen UID:
373288
Concept ID:
C1837248
6.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
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.

Progesterone

A synthetic form of the endogenous hormone progesterone. Progesterone binds to the progesterone receptor, resulting in dissociation of heat shock proteins, receptor phosphorylation, and transcription activation through direct or indirect interaction with transcription factors. This agent exerts inhibitory effects on estrogens by decreasing the number of estrogen receptors and increasing its metabolism to inactive metabolites. Progesterone induces secretory changes in the endometrium, decreases uterine contractility during pregnancy, and maintains pregnancy. (NCI04) [from NCI]

MedGen UID:
18661
Concept ID:
C0033308
Hormone; Organic Chemical; Pharmacologic Substance
9.

Pregnancy

The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. [from NCI]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
10.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
11.

Accumulation

A state characterized by the gradual increase in entities or substances. [from NCI]

MedGen UID:
883922
Concept ID:
C4055506
Finding
12.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Spatial Concept
13.

Life Threatening

A situation that imperils the existence of an entity. [from NCI]

MedGen UID:
415288
Concept ID:
C2826244
Finding
14.

Possible

Capable of happening or occurring. [from NCI]

MedGen UID:
137646
Concept ID:
C0332149
Finding
15.

Heparin-induced thrombocytopenia

A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. [from NCI]

MedGen UID:
124423
Concept ID:
C0272285
Disease or Syndrome
16.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
17.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
18.

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
19.

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
20.

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
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center