Online Mendelian Inheritance in Man - EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/606408 http://purl.bioontology.org/ontology/OMIM/606408
Preferred Name	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1
Synonyms	EDSCLL EDSCLL1 TNX DEFICIENCY EHLERS-DANLOS SYNDROME, CLASSIC-LIKE EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY EDS DUE TO TNX DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EDSCLL EDSCLL1 TNX DEFICIENCY EHLERS-DANLOS SYNDROME, CLASSIC-LIKE EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY EDS DUE TO TNX DEFICIENCY See more See less
prefLabel	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1
Gene Symbol	TNXB1 TNXBS EDSCLL1 TNX TNXB VUR8 TNXB2 See more See less
Scope Statement	Caused by mutation in the tenascin XB gene (TNXB, 600985.0001) [MOLECULAR BASIS] Some patients have a contiguous gene defect involving both the CYP21A2 (613815) and the TNXB (600985) genes [MISCELLANEOUS] Some patients may present with myopathic features [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036799 http://purl.bioontology.org/ontology/OMIM/MTHU007720 http://purl.bioontology.org/ontology/OMIM/MTHU000422 http://purl.bioontology.org/ontology/OMIM/MTHU011701 http://purl.bioontology.org/ontology/OMIM/MTHU048037 http://purl.bioontology.org/ontology/OMIM/MTHU004590 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU068517 http://purl.bioontology.org/ontology/OMIM/MTHU007650 http://purl.bioontology.org/ontology/OMIM/MTHU004643 http://purl.bioontology.org/ontology/OMIM/MTHU068520 http://purl.bioontology.org/ontology/OMIM/MTHU010954 http://purl.bioontology.org/ontology/OMIM/MTHU022282 http://purl.bioontology.org/ontology/OMIM/MTHU042859 http://purl.bioontology.org/ontology/OMIM/MTHU018430 http://purl.bioontology.org/ontology/OMIM/MTHU005652 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU005085 http://purl.bioontology.org/ontology/OMIM/MTHU005086 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU068521 http://purl.bioontology.org/ontology/OMIM/MTHU009421 http://purl.bioontology.org/ontology/OMIM/MTHU068518 http://purl.bioontology.org/ontology/OMIM/MTHU013486 http://purl.bioontology.org/ontology/OMIM/MTHU068519 See more See less
tui	T047
Gene Locus	6p21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	606408
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1848029
OMIM Entry Type	3
OMIM MimType Value	pound

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