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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/617988
http://purl.bioontology.org/ontology/OMIM/617988
Preferred Name

JABERI-ELAHI SYNDROME
Synonyms
JABELS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
JABELS
prefLabel
JABERI-ELAHI SYNDROME
Gene Symbol
GTPBP2
JABELS
notation
617988
Scope Statement
Non-progressive disorder [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the GTP-binding protein 2 gene (GTPBP2, 607434.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU011732
http://purl.bioontology.org/ontology/OMIM/MTHU002310
http://purl.bioontology.org/ontology/OMIM/MTHU002713
http://purl.bioontology.org/ontology/OMIM/MTHU036555
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU000061
http://purl.bioontology.org/ontology/OMIM/MTHU022143
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU050641
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU061182
http://purl.bioontology.org/ontology/OMIM/MTHU004214
http://purl.bioontology.org/ontology/OMIM/MTHU061177
http://purl.bioontology.org/ontology/OMIM/MTHU059669
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU002599
http://purl.bioontology.org/ontology/OMIM/MTHU007254
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU061183
http://purl.bioontology.org/ontology/OMIM/MTHU004643
http://purl.bioontology.org/ontology/OMIM/MTHU061184
http://purl.bioontology.org/ontology/OMIM/MTHU061185
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU061181
http://purl.bioontology.org/ontology/OMIM/MTHU001903
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU000282
http://purl.bioontology.org/ontology/OMIM/MTHU002513
http://purl.bioontology.org/ontology/OMIM/MTHU000577
http://purl.bioontology.org/ontology/OMIM/MTHU009601
http://purl.bioontology.org/ontology/OMIM/MTHU022778
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU002944
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU070506
http://purl.bioontology.org/ontology/OMIM/MTHU061180
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU061187
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU047925
http://purl.bioontology.org/ontology/OMIM/MTHU070505
http://purl.bioontology.org/ontology/OMIM/MTHU061178
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU049324
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
6p21.2-p21.1
tui
T047
cui
C4693848
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