Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618889
http://purl.bioontology.org/ontology/OMIM/618889
Preferred Name

LIBERFARB SYNDROME
Synonyms
SEMDLIBF
LIBF
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LIBERFARB TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SEMDLIBF
LIBF
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LIBERFARB TYPE
prefLabel
LIBERFARB SYNDROME
Gene Symbol
PSD
PSSC
LIBF
PISD
Scope Statement
Caused by mutation in the phosphatidylserine decarboxylase gene (PISD, 612770.0001) [MOLECULAR BASIS]
Skeletal abnormalities and joint laxity are not overtly present at birth [MISCELLANEOUS]
Phenotypic variability [MISCELLANEOUS]
Onset of retinal degeneration in childhood [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU071212
http://purl.bioontology.org/ontology/OMIM/MTHU052668
http://purl.bioontology.org/ontology/OMIM/MTHU034843
http://purl.bioontology.org/ontology/OMIM/MTHU036368
http://purl.bioontology.org/ontology/OMIM/MTHU041057
http://purl.bioontology.org/ontology/OMIM/MTHU001355
http://purl.bioontology.org/ontology/OMIM/MTHU071213
http://purl.bioontology.org/ontology/OMIM/MTHU071220
http://purl.bioontology.org/ontology/OMIM/MTHU071207
http://purl.bioontology.org/ontology/OMIM/MTHU071210
http://purl.bioontology.org/ontology/OMIM/MTHU047201
http://purl.bioontology.org/ontology/OMIM/MTHU071226
http://purl.bioontology.org/ontology/OMIM/MTHU004435
http://purl.bioontology.org/ontology/OMIM/MTHU009340
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU001099
http://purl.bioontology.org/ontology/OMIM/MTHU036568
http://purl.bioontology.org/ontology/OMIM/MTHU009484
http://purl.bioontology.org/ontology/OMIM/MTHU003224
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU030435
http://purl.bioontology.org/ontology/OMIM/MTHU071216
http://purl.bioontology.org/ontology/OMIM/MTHU071209
http://purl.bioontology.org/ontology/OMIM/MTHU005330
http://purl.bioontology.org/ontology/OMIM/MTHU071214
http://purl.bioontology.org/ontology/OMIM/MTHU071222
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU012591
http://purl.bioontology.org/ontology/OMIM/MTHU071208
http://purl.bioontology.org/ontology/OMIM/MTHU071224
http://purl.bioontology.org/ontology/OMIM/MTHU071211
http://purl.bioontology.org/ontology/OMIM/MTHU034846
http://purl.bioontology.org/ontology/OMIM/MTHU008076
http://purl.bioontology.org/ontology/OMIM/MTHU000290
http://purl.bioontology.org/ontology/OMIM/MTHU009338
http://purl.bioontology.org/ontology/OMIM/MTHU071206
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU001789
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU044620
http://purl.bioontology.org/ontology/OMIM/MTHU002784
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU001788
http://purl.bioontology.org/ontology/OMIM/MTHU071217
http://purl.bioontology.org/ontology/OMIM/MTHU001626
http://purl.bioontology.org/ontology/OMIM/MTHU000559
http://purl.bioontology.org/ontology/OMIM/MTHU003644
http://purl.bioontology.org/ontology/OMIM/MTHU000195
http://purl.bioontology.org/ontology/OMIM/MTHU071219
http://purl.bioontology.org/ontology/OMIM/MTHU036917
http://purl.bioontology.org/ontology/OMIM/MTHU000586
http://purl.bioontology.org/ontology/OMIM/MTHU071225
http://purl.bioontology.org/ontology/OMIM/MTHU026697
http://purl.bioontology.org/ontology/OMIM/MTHU000038
http://purl.bioontology.org/ontology/OMIM/MTHU001599
http://purl.bioontology.org/ontology/OMIM/MTHU071218
http://purl.bioontology.org/ontology/OMIM/MTHU036440
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU071223
http://purl.bioontology.org/ontology/OMIM/MTHU071227
http://purl.bioontology.org/ontology/OMIM/MTHU071215
http://purl.bioontology.org/ontology/OMIM/MTHU056194
http://purl.bioontology.org/ontology/OMIM/MTHU010820
http://purl.bioontology.org/ontology/OMIM/MTHU071221
http://purl.bioontology.org/ontology/OMIM/MTHU046462
http://purl.bioontology.org/ontology/OMIM/MTHU011293
http://purl.bioontology.org/ontology/OMIM/MTHU000585
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
22q12
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618889
Semantic type UMLS property
Has inheritance type
cui
C5394404
OMIM Entry Type
3
OMIM MimType Value
pound
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