Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
Synonyms

NTD
ID

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

NTD

SPINA BIFIDA
cui

C0080178

C3891448
Gene Locus

19q13
Gene Symbol

FUZ

NTD
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

T033

T019
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10041524 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D016135 MESH CUI
http://purl.bioontology.org/ontology/CSP/0724-6476 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/67531005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10/Q05.9 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10041524 MDRFRE CUI
http://purl.bioontology.org/ontology/WHO/0701 WHO-ART CUI
http://purl.bioontology.org/ontology/WHOFRE/0701 WHOFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/67531005 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LA19643-8 LOINC CUI
http://purl.bioontology.org/ontology/ICD10/Q05 ICD10 CUI
http://purl.bioontology.org/ontology/ICD9CM/741 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10041524 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D016135 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003373 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D4-95100 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/Q05.9 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/P1... RCD CUI
http://purl.bioontology.org/ontology/CST/SPINA%20BIFIDA COSTART CUI
http://purl.bioontology.org/ontology/ICD10CM/Q05 ICD10CM CUI
http://purl.bioontology.org/ontology/ICPC2P/N85002 ICPC2P CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0080178 MEDLINEPLUS CUI
http://purl.obolibrary.org/obo/MONDO_0020705 MONDO LOOM
http://purl.obolibrary.org/obo/MIM_182940 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0020705 EFO LOOM
http://purl.obolibrary.org/obo/MIM_182940 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0020705 DOVES LOOM
http://purl.obolibrary.org/obo/OMIM_182940 HHEAR LOOM
http://purl.obolibrary.org/obo/OMIM_182940 NIFSTD LOOM