Online Mendelian Inheritance in Man - SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617895 http://purl.bioontology.org/ontology/OMIM/617895
Preferred Name	SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
Synonyms	SRTD19
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SRTD19
prefLabel	SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
Gene Symbol	IFT81 SRTD19 CDV1R DV1
Scope Statement	Caused by mutation in the intraflagellar transport 81 gene (IFT81, 605489.0003) [MOLECULAR BASIS] Death in infancy or early childhood [MISCELLANEOUS] Based on report of 2 unrelated male patients (last curated February 2018) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036519 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU002029 http://purl.bioontology.org/ontology/OMIM/MTHU006188 http://purl.bioontology.org/ontology/OMIM/MTHU060771 http://purl.bioontology.org/ontology/OMIM/MTHU003181 http://purl.bioontology.org/ontology/OMIM/MTHU005345 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU004211 http://purl.bioontology.org/ontology/OMIM/MTHU006054 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU060866 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU060867 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU014342 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU042138 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU034161 http://purl.bioontology.org/ontology/OMIM/MTHU011293 http://purl.bioontology.org/ontology/OMIM/MTHU005316 See more See less
tui	T047
Gene Locus	12q24.13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617895
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4693524
OMIM Entry Type	3
OMIM MimType Value	pound

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