Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620748
http://purl.bioontology.org/ontology/OMIM/620748
Preferred Name

MEGALENCEPHALY-POLYDACTYLY SYNDROME
Synonyms
MPAPA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MPAPA
prefLabel
MEGALENCEPHALY-POLYDACTYLY SYNDROME
Gene Symbol
NMYC
MYCN
MPAPA
FGLDS1
Scope Statement
Caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene (MYCN, 164840.0008) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU004435
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU005288
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU006123
http://purl.bioontology.org/ontology/OMIM/MTHU006809
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU037914
http://purl.bioontology.org/ontology/OMIM/MTHU001601
http://purl.bioontology.org/ontology/OMIM/MTHU012591
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU000566
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU078538
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU004136
http://purl.bioontology.org/ontology/OMIM/MTHU022526
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU021529
http://purl.bioontology.org/ontology/OMIM/MTHU078540
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU002571
http://purl.bioontology.org/ontology/OMIM/MTHU078539
http://purl.bioontology.org/ontology/OMIM/MTHU004934
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tui
T047
Gene Locus
2p24.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620748
Semantic type UMLS property
Has inheritance type
cui
C5935591
OMIM Entry Type
3
OMIM MimType Value
pound
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