Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619602
http://purl.bioontology.org/ontology/OMIM/619602
Preferred Name

FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Synonyms
FARIMPD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
FARIMPD
prefLabel
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Gene Symbol
FARIMPD
ATP1A2
FHM2
MHP2
DEE98
Scope Statement
Onset in utero [MISCELLANEOUS]
Ventilatory support is required [MISCELLANEOUS]
Caused by mutation in the ATPase, Na+/K+ transporting, alpha-2 polypeptide gene (ATP1A2, 182340.0016) [MOLECULAR BASIS]
Death in infancy usually occurs [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU067739
http://purl.bioontology.org/ontology/OMIM/MTHU074366
http://purl.bioontology.org/ontology/OMIM/MTHU001605
http://purl.bioontology.org/ontology/OMIM/MTHU074370
http://purl.bioontology.org/ontology/OMIM/MTHU037613
http://purl.bioontology.org/ontology/OMIM/MTHU036336
http://purl.bioontology.org/ontology/OMIM/MTHU001017
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU001452
http://purl.bioontology.org/ontology/OMIM/MTHU002079
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU002392
http://purl.bioontology.org/ontology/OMIM/MTHU074373
http://purl.bioontology.org/ontology/OMIM/MTHU004626
http://purl.bioontology.org/ontology/OMIM/MTHU020314
http://purl.bioontology.org/ontology/OMIM/MTHU004214
http://purl.bioontology.org/ontology/OMIM/MTHU074367
http://purl.bioontology.org/ontology/OMIM/MTHU021792
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU074372
http://purl.bioontology.org/ontology/OMIM/MTHU074365
http://purl.bioontology.org/ontology/OMIM/MTHU074369
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU000267
http://purl.bioontology.org/ontology/OMIM/MTHU074371
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU004136
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU043252
http://purl.bioontology.org/ontology/OMIM/MTHU047648
http://purl.bioontology.org/ontology/OMIM/MTHU038242
http://purl.bioontology.org/ontology/OMIM/MTHU074368
http://purl.bioontology.org/ontology/OMIM/MTHU036366
http://purl.bioontology.org/ontology/OMIM/MTHU049263
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU007970
http://purl.bioontology.org/ontology/OMIM/MTHU005748
http://purl.bioontology.org/ontology/OMIM/MTHU005373
http://purl.bioontology.org/ontology/OMIM/MTHU032875
http://purl.bioontology.org/ontology/OMIM/MTHU003208
http://purl.bioontology.org/ontology/OMIM/MTHU041882
http://purl.bioontology.org/ontology/OMIM/MTHU062263
http://purl.bioontology.org/ontology/OMIM/MTHU005783
http://purl.bioontology.org/ontology/OMIM/MTHU058145
http://purl.bioontology.org/ontology/OMIM/MTHU055969
http://purl.bioontology.org/ontology/OMIM/MTHU001677
http://purl.bioontology.org/ontology/OMIM/MTHU074364
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tui
T047
Gene Locus
1q21-q23
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619602
Semantic type UMLS property
Has inheritance type
cui
C5562015
OMIM Entry Type
3
OMIM MimType Value
pound
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