Preferred Label : Neural tube defects, susceptibility to;
Symbol : NTD;
CISMeF acronym : NTD;
Type : Phenotype, molecular basis known;
Included titles and symbols : Spina bifida;
Description : 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).;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility conferred by mutation in the VANGL planar cell polarity protein 2 (600533.0001);
Prefixed ID : #182940;
Origin ID : 182940;
UMLS CUI : C3891448;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
Narrower ORDO disease(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
Validated automatic mappings to BTNT