Neural tube defects, susceptibility to

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;

Details

Origin ID

182940;

UMLS CUI

C3891448;

Automatic exact mappings (from CISMeF team)
- SARS-CoV-2 N-Terminal Domain [NCIt concept]
- SPINA BIFIDA [WHO-ART High Level Term]
- Spina Bifida [NCIt concept]
- Spina bifida [HPO term]
- Spina bifida [MedDRA Preferred Term]
- Spina bifida [ICD-11 Category]
- Spina bifida [ICD-9 code]
- Spina bifida [ICD-10 category]
- Spina bifida [HRDO Sign]
- Spina bifida [PASCAL descriptor]
- Spina bifida (disorder) [SNOMED CT concept]
- spina bifida [DO Concept]
- spina bifida [Radlex concept]
- spina bifida [MedlinePlus Topic]
- spinal dysraphism [MeSH Descriptor]
Currated CISMeF NLP mapping
- Neural Tube Defect [NCIt concept]
- Neural tube closure defect [ORDO Disease]
- Neural tube defect [ORDO Disease]
- Neural tube defect [PASCAL descriptor]
- Neural tube defect [HPO term]
- Neural tube defect [MedDRA Preferred Term]
- Neural tube defect [HRDO Sign]
- Neural tube defect (disorder) [SNOMED CT concept]
- neural tube defect [DO Concept]
- neural tube defect [Disease (Nov.)]
- neural tube defect [Radlex concept]
- neural tube defects [MedlinePlus Topic]
- neural tube defects [MeSH Descriptor]
- neural tube defects [MeSH concept]
Genes related to phenotype
- Fuzzy planar cell polarity protein [OMIM gene]
- T-box transcription factor t [OMIM gene]
- Vangl planar cell polarity protein 1 [OMIM gene]
- Vangl planar cell polarity protein 2 [OMIM gene]
HPO term(s)
- Absence of the sacrum [HPO term]
- Anencephaly [HPO term]
- Asymmetry of spinal facet joints [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hydrocephalus [HPO term]
- Lipoma [HPO term]
- Multiple lipomas [HPO term]
- Myelomeningocele [HPO term]
- Sacral dimple [HPO term]
- Spina bifida occulta [HPO term]
- Urinary incontinence [HPO term]
Narrower ORDO disease(s)
- Isolated spina bifida [ORDO Disease]
ORDO concept(s)
- Isolated spina bifida [ORDO Disease]
- Neural tube closure defect [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to BTNT
- Spinal dysraphism [HPO term]
- spina bifida [Disease (Nov.)]

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