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Items: 20

1.

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
2.

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
3.

Neural tube defect

MedGen UID:
832198
Concept ID:
CN227258
Finding
4.

Neural tube defect

MedGen UID:
807920
Concept ID:
CN220902
Finding
5.

Anencephaly

MedGen UID:
776557
Concept ID:
C2021655
Finding
6.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
7.

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
8.

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
9.

Striadyne

MedGen UID:
196163
Concept ID:
C0701945
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
10.

Atriphos

MedGen UID:
148792
Concept ID:
C0701946
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
11.

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
12.

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
13.

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
14.

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
15.

Craniorachischisis

A neural tube defect in which both the brain and spinal cord remain open to varying degrees. [from HPO]

MedGen UID:
56290
Concept ID:
C0152426
Congenital Abnormality
16.

Diastematomyelia

A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. [from NCI]

MedGen UID:
3801
Concept ID:
C0011999
Congenital Abnormality
17.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
18.

Adenosine triphosphate

An adenine nucleotide comprised of three phosphate groups esterified to the sugar moiety, found in all living cells. Adenosine triphosphate is involved in energy production for metabolic processes and RNA synthesis. In addition, this substance acts as a neurotransmitter. In cancer studies, adenosine triphosphate is synthesized to examine its use to decrease weight loss and improve muscle strength. [from NCI]

MedGen UID:
133
Concept ID:
C0001480
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
19.

Nucleotides, Adenine

condensation product of adenosine and phosphoric acid; a nucleotide found among the hydrolysis products of all nucleic acids. [from CRISP]

MedGen UID:
120
Concept ID:
C0001413
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
20.

Hemianencephaly

MedGen UID:
86218
Concept ID:
C0302356
Congenital Abnormality
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