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1.

Neural tube defect

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism. [from GTR]

MedGen UID:
18009
Concept ID:
C0027794
Congenital Abnormality
2.

Glycine

A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. [from MeSH]

MedGen UID:
6636
Concept ID:
C0017890
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
4.

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
5.

Folate

A cofactor for 1-carbon transfer involved with DNA synthesis. [from NCI]

MedGen UID:
59819
Concept ID:
C0178638
Organic Chemical; Pharmacologic Substance; Vitamin
6.

Methionine preparation

A sulfur-containing essential L-amino acid that is important in many body functions. [from MeSH]

MedGen UID:
9989
Concept ID:
C0025646
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
7.

Folic acid

A collective term for pteroylglutamic acids and their oligoglutamic acid conjugates. As a natural water-soluble substance, folic acid is involved in carbon transfer reactions of amino acid metabolism, in addition to purine and pyrimidine synthesis, and is essential for hematopoiesis and red blood cell production. (NCI05) [from NCI]

MedGen UID:
8876
Concept ID:
C0016410
Organic Chemical; Pharmacologic Substance; Vitamin
8.

Anencephalus

Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect (182940) (summary by Singh et al., 2017). [from GTR]

MedGen UID:
8068
Concept ID:
C0002902
Congenital Abnormality
9.

Frequency

MedGen UID:
1381421
Concept ID:
C4321352
Intellectual Product
10.

NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO

MedGen UID:
856010
Concept ID:
C3891448
Finding
11.

Anencephaly

MedGen UID:
776557
Concept ID:
C2021655
Finding
12.

Spina bifida

Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. [from HPO]

MedGen UID:
505230
Concept ID:
CN002193
Finding
13.

Possible

Capable of happening or occurring. [from NCI]

MedGen UID:
137646
Concept ID:
C0332149
Finding
14.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
15.

Spina bifida

Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function. [from GTR]

MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
16.

Acrania

Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. [from HPO]

MedGen UID:
147316
Concept ID:
C0702169
Congenital Abnormality
17.

Exencephaly

A congenital abnormality characterized by the extrusion of the brain outside of the skull. [from NCI]

MedGen UID:
120577
Concept ID:
C0266453
Congenital Abnormality
18.

Abnormality of the nervous system

An abnormality of the nervous system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
19.

Cranioschisis

A congenital abnormality characterized by the failure of the bones of the skull to close. [from NCI]

MedGen UID:
78563
Concept ID:
C0265541
Congenital Abnormality
20.

Iniencephaly

A rare neural tube defect characterized by extreme retroflexion of the head and severe defects of the spine. It is usually associated with other congenital anomalies. [from NCI]

MedGen UID:
57756
Concept ID:
C0152234
Congenital Abnormality
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