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Results: 19

1.

Error occurred: cannot get document summary

ID:
449619

2.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
3.

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) is a bony defect of the spine covered by normal skin. It is mild form of spina bifida and 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). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634). [from OMIM]

MedGen UID:
18009
Concept ID:
C0027794
Finding
4.

Folate

Class of water-soluble vitamins that are coenzymes in single-carbon transfers in the metabolism of nucleic and amino acids. (DRI) [from NCI]

MedGen UID:
59819
Concept ID:
C0178638
Pharmacologic Substance
5.

Pregnancy

The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. [ISBN:0192800825] [from GO]

MedGen UID:
10895
Concept ID:
C0032961
6.

folic acid metabolism

Metabolic processes that utilize folic acid (as tetrahydrofolate) as a carbon unit donor. [from NCI]

MedGen UID:
218880
Concept ID:
C1157079
Molecular Function
7.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
8.

disease transmission

Transmission of disease from one individual to another. [from PSY]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function
9.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
10.

MedGen UID:
147316
Concept ID:
C0702169
11.

MedGen UID:
120577
Concept ID:
C0266453
12.

Congenital anomaly of nervous system

Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis. [from MeSH]

MedGen UID:
105425
Concept ID:
C0497552
Disease or Syndrome
13.

Cranioschisis

MedGen UID:
78563
Concept ID:
C0265541
Congenital Abnormality
14.

Iniencephaly

MedGen UID:
57756
Concept ID:
C0152234
Congenital Abnormality
15.

Craniorachischisis

A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth. [from NCI]

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

Disorder of nervous system

A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. [from NCI]

MedGen UID:
14336
Concept ID:
C0027765
Disease or Syndrome
17.

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
Disease or Syndrome
18.

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
Disease or Syndrome
19.

Congenital Abnormality

Malformations of organs or body parts during development in utero. [from MeSH]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality

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