Online Mendelian Inheritance in Man - EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/612350 http://purl.bioontology.org/ontology/OMIM/612350
Preferred Name	EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
Synonyms	SCD-EDS SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE EDSSPD3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCD-EDS SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE EDSSPD3
prefLabel	EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
Gene Symbol	EDSSPD3 SLC39A13 ZIP13
Scope Statement	Waddling gait [MISCELLANEOUS] Caused by mutation in the solute carrier family 39 (zinc transporter), member 13 gene (SLC39A13, 608735.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018417 http://purl.bioontology.org/ontology/OMIM/MTHU021356 http://purl.bioontology.org/ontology/OMIM/MTHU021347 http://purl.bioontology.org/ontology/OMIM/MTHU000889 http://purl.bioontology.org/ontology/OMIM/MTHU001504 http://purl.bioontology.org/ontology/OMIM/MTHU021348 http://purl.bioontology.org/ontology/OMIM/MTHU021350 http://purl.bioontology.org/ontology/OMIM/MTHU021360 http://purl.bioontology.org/ontology/OMIM/MTHU001174 http://purl.bioontology.org/ontology/OMIM/MTHU021365 http://purl.bioontology.org/ontology/OMIM/MTHU021357 http://purl.bioontology.org/ontology/OMIM/MTHU021354 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU015646 http://purl.bioontology.org/ontology/OMIM/MTHU021353 http://purl.bioontology.org/ontology/OMIM/MTHU004805 http://purl.bioontology.org/ontology/OMIM/MTHU036699 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU005937 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU002570 http://purl.bioontology.org/ontology/OMIM/MTHU019791 http://purl.bioontology.org/ontology/OMIM/MTHU021358 http://purl.bioontology.org/ontology/OMIM/MTHU005958 http://purl.bioontology.org/ontology/OMIM/MTHU001511 http://purl.bioontology.org/ontology/OMIM/MTHU013221 http://purl.bioontology.org/ontology/OMIM/MTHU021349 http://purl.bioontology.org/ontology/OMIM/MTHU007616 http://purl.bioontology.org/ontology/OMIM/MTHU013088 http://purl.bioontology.org/ontology/OMIM/MTHU021363 http://purl.bioontology.org/ontology/OMIM/MTHU021316 http://purl.bioontology.org/ontology/OMIM/MTHU021352 http://purl.bioontology.org/ontology/OMIM/MTHU013042 http://purl.bioontology.org/ontology/OMIM/MTHU021361 http://purl.bioontology.org/ontology/OMIM/MTHU021362 http://purl.bioontology.org/ontology/OMIM/MTHU021355 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU021366 http://purl.bioontology.org/ontology/OMIM/MTHU001976 http://purl.bioontology.org/ontology/OMIM/MTHU021359 http://purl.bioontology.org/ontology/OMIM/MTHU000585 http://purl.bioontology.org/ontology/OMIM/MTHU021351 See more See less
tui	T047
Gene Locus	11p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612350
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C2676510
OMIM Entry Type	3
OMIM MimType Value	pound

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