Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/251280
http://purl.bioontology.org/ontology/OMIM/251280
Preferred Name

DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1
Synonyms
DMJDS1
MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS
MISSBC
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DMJDS1
MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS
MISSBC
prefLabel
DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1
Gene Symbol
VECAD2
PCDH12
DMJDS1
Scope Statement
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the protocadherin 12 gene (PCDH12, 605622.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU004156
http://purl.bioontology.org/ontology/OMIM/MTHU058412
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU000474
http://purl.bioontology.org/ontology/OMIM/MTHU002113
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU020425
http://purl.bioontology.org/ontology/OMIM/MTHU065376
http://purl.bioontology.org/ontology/OMIM/MTHU044748
http://purl.bioontology.org/ontology/OMIM/MTHU065374
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU052656
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU007254
http://purl.bioontology.org/ontology/OMIM/MTHU057673
http://purl.bioontology.org/ontology/OMIM/MTHU005347
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU065373
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU001237
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU058410
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU065375
http://purl.bioontology.org/ontology/OMIM/MTHU058414
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU065372
http://purl.bioontology.org/ontology/OMIM/MTHU067738
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU031984
http://purl.bioontology.org/ontology/OMIM/MTHU035799
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU004222
http://purl.bioontology.org/ontology/OMIM/MTHU001677
http://purl.bioontology.org/ontology/OMIM/MTHU058411
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tui
T047
Gene Locus
5q31
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
251280
Semantic type UMLS property
Has inheritance type
cui
C4538630
OMIM Entry Type
3
OMIM MimType Value
pound
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