Online Mendelian Inheritance in Man - MECKEL SYNDROME 14 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619879 http://purl.bioontology.org/ontology/OMIM/619879
Preferred Name	MECKEL SYNDROME 14
Synonyms	MKS14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MKS14
prefLabel	MECKEL SYNDROME 14
Gene Symbol	C5orf14 TXNDC15 MKS14 BUG
Scope Statement	Six patients from 5 families have been reported [MISCELLANEOUS] Lethal syndrome (within hours after birth) [MISCELLANEOUS] Caused by mutation in the thioredoxin domain-containing protein-15 gene (TXNDC15, 617778.0001) [MOLECULAR BASIS] Stillbirth has been reported [MISCELLANEOUS] Variable features may be present [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002514 http://purl.bioontology.org/ontology/OMIM/MTHU037029 http://purl.bioontology.org/ontology/OMIM/MTHU075473 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU009434 http://purl.bioontology.org/ontology/OMIM/MTHU075474 http://purl.bioontology.org/ontology/OMIM/MTHU075479 http://purl.bioontology.org/ontology/OMIM/MTHU075472 http://purl.bioontology.org/ontology/OMIM/MTHU075478 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU004124 http://purl.bioontology.org/ontology/OMIM/MTHU075471 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU037221 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU011721 http://purl.bioontology.org/ontology/OMIM/MTHU075477 http://purl.bioontology.org/ontology/OMIM/MTHU068125 http://purl.bioontology.org/ontology/OMIM/MTHU007070 http://purl.bioontology.org/ontology/OMIM/MTHU005305 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU005770 http://purl.bioontology.org/ontology/OMIM/MTHU002578 http://purl.bioontology.org/ontology/OMIM/MTHU075475 http://purl.bioontology.org/ontology/OMIM/MTHU075476 http://purl.bioontology.org/ontology/OMIM/MTHU005772 http://purl.bioontology.org/ontology/OMIM/MTHU011731 See more See less
tui	T047
Gene Locus	5q31.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619879
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5676989
OMIM Entry Type	3
OMIM MimType Value	pound

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