PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Neural Tube Defect

Synonyms
Definitions

A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.

ID

http://www.phoc.org.cn/pmo/class/PMO_00009934

Database_Cross_Reference

LNC:LP173544-0

MTH:NOCODE

CSP:2403-8856

HPO:HP:0010301

NCI:C84923

CCPSS:0037394

MDR:10052046

HPO:HP:0045005

OMIM:MTHU048953

MSH:D009436

MEDCIN:360187

NCI_NICHD:C84923

NDFRT:N0000002161

CHV:0000008617

LNC:MTHU052259

CSP:0725-4145

LNC:LP62866-6

MEDLINEPLUS:340

SNOMEDCT_US:253098009

RCD:X77q9

Definition

A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.

equivalentClass

http://www.phoc.org.cn/pmo/class/PMO_00036543

label

Neural Tube Defect

MCID

MC00008806

PMOID

PMO:00009934

prefixIRI

pmo:PMO_00009934

prefLabel

Neural Tube Defect

Synonym

Defects, Neural Tube

Spinal Dysraphism

defect neural tube

Neural tube defect (disorder)

Abnormality of neural tube closure

Defect, Neural Tube

Developmental Defects, Neural Tube

Neural Tube Defects [Disease/Finding]

Neural Tube Defect

NTDS

Neural Tube Developmental Defects

Developmental Neural Tube Defects

Neural tube defect (diagnosis)

Incomplete closure of the vertebral arch

NTD

Neural Tube Defects

NTD - Neural tube defect

tube neural defects

defects neural tube

Tree Number

T3.17.4.5.2.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00009933

http://www.phoc.org.cn/pmo/class/PMO_00036528

http://www.phoc.org.cn/pmo/class/PMO_00009759

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0045005 MAXO LOOM
http://purl.obolibrary.org/obo/MONDO_0018075 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018075 EFO LOOM
http://purl.obolibrary.org/obo/HP_0045005 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0018075 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018075 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0018075 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018075 KTAO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Neural_Tube_Defect PEDTERM LOOM
http://purl.obolibrary.org/obo/HP_0045005 HP LOOM
http://purl.obolibrary.org/obo/HP_0045005 UPHENO LOOM
http://purl.bioontology.org/ontology/RCD/X77q9 RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052046 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/253098009 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_3388 ORDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU058304 OMIM LOOM
http://purl.obolibrary.org/obo/IEV_0002700 PTS LOOM
http://www.gamuts.net/entity#neural_tube_defect GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0080074 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_0080074 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0080074 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080074 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080074 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0080074 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080074 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080074 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0080074 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Neural_Tube_Defect CSEO LOOM
http://purl.bioontology.org/ontology/LNC/LP62866-6 LOINC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2999 HRDO LOOM
http://radlex.org/RID/RID34598 RADLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C84923 BERO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU052259 LOINC LOOM
http://www.co-ode.org/ontologies/galen#NeuralTubeDefect GALEN LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84923 NCIT LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_42030 HRDO LOOM