Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619218
http://purl.bioontology.org/ontology/OMIM/619218
Preferred Name

ENDOVE SYNDROME, LIMB-BRAIN TYPE
Synonyms
ENDOVESLB
MESOMELIA OF LOWER EXTREMITIES WITH HAND, FOOT, AND BRAIN ANOMALIES
MLEHFB
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ENDOVESLB
MESOMELIA OF LOWER EXTREMITIES WITH HAND, FOOT, AND BRAIN ANOMALIES
MLEHFB
prefLabel
ENDOVE SYNDROME, LIMB-BRAIN TYPE
Gene Symbol
ENDOVESLB
EN1
Scope Statement
Based on report of 1 patient (last curated March 2021) [MISCELLANEOUS]
Caused by mutation in the engrailed-1 gene (EN1, 131290.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU072893
http://purl.bioontology.org/ontology/OMIM/MTHU072905
http://purl.bioontology.org/ontology/OMIM/MTHU007682
http://purl.bioontology.org/ontology/OMIM/MTHU072882
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU002079
http://purl.bioontology.org/ontology/OMIM/MTHU072896
http://purl.bioontology.org/ontology/OMIM/MTHU039191
http://purl.bioontology.org/ontology/OMIM/MTHU072891
http://purl.bioontology.org/ontology/OMIM/MTHU072903
http://purl.bioontology.org/ontology/OMIM/MTHU072902
http://purl.bioontology.org/ontology/OMIM/MTHU064340
http://purl.bioontology.org/ontology/OMIM/MTHU072894
http://purl.bioontology.org/ontology/OMIM/MTHU029212
http://purl.bioontology.org/ontology/OMIM/MTHU072897
http://purl.bioontology.org/ontology/OMIM/MTHU072892
http://purl.bioontology.org/ontology/OMIM/MTHU072901
http://purl.bioontology.org/ontology/OMIM/MTHU072883
http://purl.bioontology.org/ontology/OMIM/MTHU072895
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU072906
http://purl.bioontology.org/ontology/OMIM/MTHU072907
http://purl.bioontology.org/ontology/OMIM/MTHU037120
http://purl.bioontology.org/ontology/OMIM/MTHU072904
http://purl.bioontology.org/ontology/OMIM/MTHU072900
http://purl.bioontology.org/ontology/OMIM/MTHU072908
http://purl.bioontology.org/ontology/OMIM/MTHU007034
http://purl.bioontology.org/ontology/OMIM/MTHU072909
http://purl.bioontology.org/ontology/OMIM/MTHU072899
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU033533
http://purl.bioontology.org/ontology/OMIM/MTHU072898
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tui
T047
Gene Locus
2q14.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619218
Semantic type UMLS property
Has inheritance type
cui
C5543142
OMIM Entry Type
3
OMIM MimType Value
pound
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