Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618393
http://purl.bioontology.org/ontology/OMIM/618393
Preferred Name

FETAL AKINESIA DEFORMATION SEQUENCE 4
Synonyms
FADS4
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
FADS4
prefLabel
FETAL AKINESIA DEFORMATION SEQUENCE 4
Gene Symbol
FADS4
NUP88
Scope Statement
Caused by mutation in the nucleoporin, 88-kD gene (NUP88, 602552.0001) [MOLECULAR BASIS]
Onset in utero [MISCELLANEOUS]
Two unrelated families have been reported (last curated April 2019) [MISCELLANEOUS]
Death in utero or soon after birth [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU048281
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU064544
http://purl.bioontology.org/ontology/OMIM/MTHU003217
http://purl.bioontology.org/ontology/OMIM/MTHU064543
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU002170
http://purl.bioontology.org/ontology/OMIM/MTHU064542
http://purl.bioontology.org/ontology/OMIM/MTHU004163
http://purl.bioontology.org/ontology/OMIM/MTHU009867
http://purl.bioontology.org/ontology/OMIM/MTHU038242
http://purl.bioontology.org/ontology/OMIM/MTHU051395
http://purl.bioontology.org/ontology/OMIM/MTHU022713
http://purl.bioontology.org/ontology/OMIM/MTHU000189
See more
See less
tui
T047
Gene Locus
17p13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618393
Semantic type UMLS property
Has inheritance type
cui
C4760578
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display