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Preferred Name

NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
Synonyms

SPINA BIFIDA
ID

http://purl.bioontology.org/ontology/OMIM/182940
altLabel

SPINA BIFIDA

NTD
cui

C0080178

C3891448
Gene Locus

19q13
Gene Symbol

FUZ

NTD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036757

http://purl.bioontology.org/ontology/OMIM/MTHU059515

http://purl.bioontology.org/ontology/OMIM/MTHU007928

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU011716

http://purl.bioontology.org/ontology/OMIM/MTHU036568

http://purl.bioontology.org/ontology/OMIM/MTHU065216

http://purl.bioontology.org/ontology/OMIM/MTHU065214

http://purl.bioontology.org/ontology/OMIM/MTHU065218

http://purl.bioontology.org/ontology/OMIM/MTHU065212

http://purl.bioontology.org/ontology/OMIM/MTHU022584

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU065213

http://purl.bioontology.org/ontology/OMIM/MTHU065217

http://purl.bioontology.org/ontology/OMIM/MTHU065215
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

182940
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
Scope Statement

Susceptibility conferred by mutation in the VANGL planar cell polarity protein 2 (600533.0001) [MOLECULAR BASIS]
tui

T019

T033
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http://purl.obolibrary.org/obo/OMIM_182940 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0020705 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0020705 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0080178 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q05.9 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q05.9 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D016135 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q05 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q05 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10/Q05 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10/Q05.9 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/LNC/LA19643-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI