Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/617866
http://purl.bioontology.org/ontology/OMIM/617866
Preferred Name

SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
Synonyms
SRTD18
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SRTD18
prefLabel
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
Gene Symbol
RP81
C14orf179
SRTD18
CED3
IFT43
Scope Statement
Based on report of 3 patients (last curated January 2018) [MISCELLANEOUS]
Caused by mutation in the intraflagellar transport 43 gene (IFT43, 614068.0002) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU036519
http://purl.bioontology.org/ontology/OMIM/MTHU060753
http://purl.bioontology.org/ontology/OMIM/MTHU060758
http://purl.bioontology.org/ontology/OMIM/MTHU060777
http://purl.bioontology.org/ontology/OMIM/MTHU060765
http://purl.bioontology.org/ontology/OMIM/MTHU060754
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU060768
http://purl.bioontology.org/ontology/OMIM/MTHU014853
http://purl.bioontology.org/ontology/OMIM/MTHU060770
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU060779
http://purl.bioontology.org/ontology/OMIM/MTHU060757
http://purl.bioontology.org/ontology/OMIM/MTHU060771
http://purl.bioontology.org/ontology/OMIM/MTHU060773
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU002592
http://purl.bioontology.org/ontology/OMIM/MTHU060775
http://purl.bioontology.org/ontology/OMIM/MTHU043841
http://purl.bioontology.org/ontology/OMIM/MTHU009247
http://purl.bioontology.org/ontology/OMIM/MTHU021004
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU060756
http://purl.bioontology.org/ontology/OMIM/MTHU060780
http://purl.bioontology.org/ontology/OMIM/MTHU060759
http://purl.bioontology.org/ontology/OMIM/MTHU011721
http://purl.bioontology.org/ontology/OMIM/MTHU073879
http://purl.bioontology.org/ontology/OMIM/MTHU060761
http://purl.bioontology.org/ontology/OMIM/MTHU060778
http://purl.bioontology.org/ontology/OMIM/MTHU060776
http://purl.bioontology.org/ontology/OMIM/MTHU060762
http://purl.bioontology.org/ontology/OMIM/MTHU060763
http://purl.bioontology.org/ontology/OMIM/MTHU060774
http://purl.bioontology.org/ontology/OMIM/MTHU060755
http://purl.bioontology.org/ontology/OMIM/MTHU056051
http://purl.bioontology.org/ontology/OMIM/MTHU060769
http://purl.bioontology.org/ontology/OMIM/MTHU060760
http://purl.bioontology.org/ontology/OMIM/MTHU012198
http://purl.bioontology.org/ontology/OMIM/MTHU060766
http://purl.bioontology.org/ontology/OMIM/MTHU002571
http://purl.bioontology.org/ontology/OMIM/MTHU002221
http://purl.bioontology.org/ontology/OMIM/MTHU014835
http://purl.bioontology.org/ontology/OMIM/MTHU060772
http://purl.bioontology.org/ontology/OMIM/MTHU060764
http://purl.bioontology.org/ontology/OMIM/MTHU051407
http://purl.bioontology.org/ontology/OMIM/MTHU060767
http://purl.bioontology.org/ontology/OMIM/MTHU005316
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tui
T047
Gene Locus
14q24.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
617866
Semantic type UMLS property
Has inheritance type
cui
C4693420
OMIM Entry Type
3
OMIM MimType Value
pound
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