Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/616897
http://purl.bioontology.org/ontology/OMIM/616897
Preferred Name

OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
Synonyms
OCLSBG
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OCLSBG
prefLabel
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
Gene Symbol
CMVFR
OCLSBG
TAPT1
Scope Statement
Six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated April 2016) [MISCELLANEOUS]
Caused by mutation in the transmembrane anterior posterior transformation-1 gene (TAPT1, 612758.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU004401
http://purl.bioontology.org/ontology/OMIM/MTHU013044
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU053282
http://purl.bioontology.org/ontology/OMIM/MTHU053281
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU053274
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU009434
http://purl.bioontology.org/ontology/OMIM/MTHU053285
http://purl.bioontology.org/ontology/OMIM/MTHU037190
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU053278
http://purl.bioontology.org/ontology/OMIM/MTHU053286
http://purl.bioontology.org/ontology/OMIM/MTHU003721
http://purl.bioontology.org/ontology/OMIM/MTHU053273
http://purl.bioontology.org/ontology/OMIM/MTHU053276
http://purl.bioontology.org/ontology/OMIM/MTHU036393
http://purl.bioontology.org/ontology/OMIM/MTHU001601
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU002592
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU001802
http://purl.bioontology.org/ontology/OMIM/MTHU029212
http://purl.bioontology.org/ontology/OMIM/MTHU053280
http://purl.bioontology.org/ontology/OMIM/MTHU036403
http://purl.bioontology.org/ontology/OMIM/MTHU009460
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU053288
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU003644
http://purl.bioontology.org/ontology/OMIM/MTHU005933
http://purl.bioontology.org/ontology/OMIM/MTHU053284
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU053289
http://purl.bioontology.org/ontology/OMIM/MTHU019968
http://purl.bioontology.org/ontology/OMIM/MTHU053290
http://purl.bioontology.org/ontology/OMIM/MTHU036522
http://purl.bioontology.org/ontology/OMIM/MTHU053275
http://purl.bioontology.org/ontology/OMIM/MTHU037881
http://purl.bioontology.org/ontology/OMIM/MTHU000033
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU053283
http://purl.bioontology.org/ontology/OMIM/MTHU053279
http://purl.bioontology.org/ontology/OMIM/MTHU003098
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU032875
http://purl.bioontology.org/ontology/OMIM/MTHU000257
http://purl.bioontology.org/ontology/OMIM/MTHU012521
http://purl.bioontology.org/ontology/OMIM/MTHU000064
http://purl.bioontology.org/ontology/OMIM/MTHU053277
http://purl.bioontology.org/ontology/OMIM/MTHU037219
http://purl.bioontology.org/ontology/OMIM/MTHU053287
http://purl.bioontology.org/ontology/OMIM/MTHU000585
http://purl.bioontology.org/ontology/OMIM/MTHU053272
http://purl.bioontology.org/ontology/OMIM/MTHU005316
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tui
T047
Gene Locus
4p15.32
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
616897
Semantic type UMLS property
Has inheritance type
cui
C4225162
OMIM Entry Type
3
OMIM MimType Value
pound
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