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Results: 1 to 20 of 37

1.

Partial monosomy

MedGen UID:
419239
Concept ID:
C2930745
Cell or Molecular Dysfunction
2.

Partial trisomy

MedGen UID:
220961
Concept ID:
C1297882
Congenital Abnormality
3.

Trisomy

The possession of a third chromosome of any one type in an otherwise diploid cell. [from MeSH]

MedGen UID:
21702
Concept ID:
C0041107
Disease or Syndrome
4.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Monosomy

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. [from MeSH]

MedGen UID:
6432
Concept ID:
C0026499
Congenital Abnormality
6.

Complete trisomy 21 syndrome

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]

MedGen UID:
4385
Concept ID:
C0013080
Congenital Abnormality
7.

Peroxisome Biogenesis Disorder, Complementation Group H

MedGen UID:
356488
Concept ID:
C1866260
Disease or Syndrome
8.

Hypertrichosis congenital generalized X-linked

MedGen UID:
341002
Concept ID:
C1855900
Disease or Syndrome
9.

Congenital defects

A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect. A birth defect may affect how the body looks, works or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can vary from mild to severe. Some result from exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome. Infections during pregnancy can also result in birth defects. For most birth defects, the cause is unknown. . Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects. Babies with birth defects may need surgery or other medical treatments. Today, doctors can diagnose many birth defects in the womb. This enables them to treat or even correct some problems before the baby is born. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
66328
Concept ID:
C0220810
Congenital Abnormality
10.

Trisomy 21

A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells. [from NCI]

MedGen UID:
760825
Concept ID:
C3537167
Cell or Molecular Dysfunction
11.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
12.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
13.

Chromosome 21 monosomy

The absence of one chromosome of one pair in an otherwise diploid chromosome 21. The syndrome is characterized by developmental retardation in association with craniofacial, skeletal, genital, cardiac, and other anomalies. The phenotype shares some similarities with the chromosome 21q deletion syndrome. [from MCA/MR]

MedGen UID:
162883
Concept ID:
C0795875
Disease or Syndrome
14.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
15.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
16.

Duplication of chromosome

An aberration in which an extra chromosome or a chromosomal segment is made. [from MeSH]

MedGen UID:
275730
Concept ID:
C1516516
Cell or Molecular Dysfunction
17.

Mental deficiency

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
18.

Genetic Diseases, Inborn

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
19.

Allelic Imbalance

A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified. [from MeSH]

MedGen UID:
168420
Concept ID:
C0887935
Cell or Molecular Dysfunction
20.

Neurobehavioral Manifestations

Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. [from MeSH]

MedGen UID:
105653
Concept ID:
C0525041
Sign or Symptom

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