Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/618914
http://purl.bioontology.org/ontology/OMIM/618914
Preferred Name

NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
Synonyms
NEDJED
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEDJED
prefLabel
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
Gene Symbol
NEDJED
BTRC2
BTRCP2
FBXW1B
FBXW11
notation
618914
Scope Statement
Clinical variability [MISCELLANEOUS]
Caused by mutation in the F-box and WD40 domain protein-11 gene (FBXW11, 605651.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU008526
http://purl.bioontology.org/ontology/OMIM/MTHU000248
http://purl.bioontology.org/ontology/OMIM/MTHU071311
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU071299
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU017295
http://purl.bioontology.org/ontology/OMIM/MTHU071310
http://purl.bioontology.org/ontology/OMIM/MTHU057434
http://purl.bioontology.org/ontology/OMIM/MTHU000258
http://purl.bioontology.org/ontology/OMIM/MTHU071301
http://purl.bioontology.org/ontology/OMIM/MTHU001138
http://purl.bioontology.org/ontology/OMIM/MTHU044456
http://purl.bioontology.org/ontology/OMIM/MTHU000061
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU071308
http://purl.bioontology.org/ontology/OMIM/MTHU002079
http://purl.bioontology.org/ontology/OMIM/MTHU071309
http://purl.bioontology.org/ontology/OMIM/MTHU006123
http://purl.bioontology.org/ontology/OMIM/MTHU031018
http://purl.bioontology.org/ontology/OMIM/MTHU012453
http://purl.bioontology.org/ontology/OMIM/MTHU071316
http://purl.bioontology.org/ontology/OMIM/MTHU071291
http://purl.bioontology.org/ontology/OMIM/MTHU071302
http://purl.bioontology.org/ontology/OMIM/MTHU057896
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU011588
http://purl.bioontology.org/ontology/OMIM/MTHU071313
http://purl.bioontology.org/ontology/OMIM/MTHU001106
http://purl.bioontology.org/ontology/OMIM/MTHU003105
http://purl.bioontology.org/ontology/OMIM/MTHU014887
http://purl.bioontology.org/ontology/OMIM/MTHU000560
http://purl.bioontology.org/ontology/OMIM/MTHU071290
http://purl.bioontology.org/ontology/OMIM/MTHU036403
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU071314
http://purl.bioontology.org/ontology/OMIM/MTHU071296
http://purl.bioontology.org/ontology/OMIM/MTHU009211
http://purl.bioontology.org/ontology/OMIM/MTHU071293
http://purl.bioontology.org/ontology/OMIM/MTHU057902
http://purl.bioontology.org/ontology/OMIM/MTHU071297
http://purl.bioontology.org/ontology/OMIM/MTHU071292
http://purl.bioontology.org/ontology/OMIM/MTHU058841
http://purl.bioontology.org/ontology/OMIM/MTHU071306
http://purl.bioontology.org/ontology/OMIM/MTHU004136
http://purl.bioontology.org/ontology/OMIM/MTHU002170
http://purl.bioontology.org/ontology/OMIM/MTHU005305
http://purl.bioontology.org/ontology/OMIM/MTHU071305
http://purl.bioontology.org/ontology/OMIM/MTHU066568
http://purl.bioontology.org/ontology/OMIM/MTHU000268
http://purl.bioontology.org/ontology/OMIM/MTHU036841
http://purl.bioontology.org/ontology/OMIM/MTHU071303
http://purl.bioontology.org/ontology/OMIM/MTHU036366
http://purl.bioontology.org/ontology/OMIM/MTHU032054
http://purl.bioontology.org/ontology/OMIM/MTHU001895
http://purl.bioontology.org/ontology/OMIM/MTHU071307
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU001753
http://purl.bioontology.org/ontology/OMIM/MTHU071295
http://purl.bioontology.org/ontology/OMIM/MTHU036449
http://purl.bioontology.org/ontology/OMIM/MTHU000606
http://purl.bioontology.org/ontology/OMIM/MTHU071298
http://purl.bioontology.org/ontology/OMIM/MTHU032275
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU071300
http://purl.bioontology.org/ontology/OMIM/MTHU071304
http://purl.bioontology.org/ontology/OMIM/MTHU071294
http://purl.bioontology.org/ontology/OMIM/MTHU000613
http://purl.bioontology.org/ontology/OMIM/MTHU006871
http://purl.bioontology.org/ontology/OMIM/MTHU017611
http://purl.bioontology.org/ontology/OMIM/MTHU071315
http://purl.bioontology.org/ontology/OMIM/MTHU071312
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
5q35.1
tui
T047
cui
C5394477
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