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Items: 18

1.

P-2

MedGen UID:
114772
Concept ID:
C0608663
Organic Chemical; Pharmacologic Substance
2.

Dead - expected

MedGen UID:
737974
Concept ID:
C1630407
Finding
3.

Able

MedGen UID:
721424
Concept ID:
C1299581
Finding
4.

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
5.

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
6.

Inborn genetic diseases

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
Disease or Syndrome
7.

Embryo Loss

Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization. [from MeSH]

MedGen UID:
155754
Concept ID:
C0752351
Pathologic Function
8.

Disorder of lipid metabolism

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. [from NCI]

MedGen UID:
57587
Concept ID:
C0154251
Disease or Syndrome
9.

Pregnancy Complication

The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. [from NCI]

MedGen UID:
46066
Concept ID:
C0032962
Disease or Syndrome
10.

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
11.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
12.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
13.

Miscarriage of tubal ectopic pregnancy

MedGen UID:
7813
Concept ID:
C0000822
Pathologic Function
14.

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
15.

Lipid Metabolism, Inborn Errors

Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. [from MeSH]

MedGen UID:
6106
Concept ID:
C0023772
Disease or Syndrome
16.

Spontaneous abortion

A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. [from HPO]

MedGen UID:
39
Concept ID:
C0000786
Finding; Pathologic Function
17.

Preimplantation embryonic lethality 2

MedGen UID:
934626
Concept ID:
C4310659
Disease or Syndrome
18.

Death in early adulthood

Death between the age of 16 and 40 years. [from HPO]

MedGen UID:
867624
Concept ID:
C4022012
Finding
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