Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/271630 http://purl.bioontology.org/ontology/OMIM/271630
Preferred Name	BRACHYOLMIA TYPE 1, TOLEDO TYPE
Synonyms	SED, CHONDROITIN SULFATE TYPE BCYM1B PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SED, CHONDROITIN SULFATE TYPE BCYM1B PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE
prefLabel	BRACHYOLMIA TYPE 1, TOLEDO TYPE
Scope Statement	Abnormal gait [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU022931 http://purl.bioontology.org/ontology/OMIM/MTHU000820 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU009310 http://purl.bioontology.org/ontology/OMIM/MTHU009308 http://purl.bioontology.org/ontology/OMIM/MTHU013088 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU005540 http://purl.bioontology.org/ontology/OMIM/MTHU026835 http://purl.bioontology.org/ontology/OMIM/MTHU009307 http://purl.bioontology.org/ontology/OMIM/MTHU001102 http://purl.bioontology.org/ontology/OMIM/MTHU009304 http://purl.bioontology.org/ontology/OMIM/MTHU009306 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	271630
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1849048
OMIM Entry Type	5
OMIM MimType Value	perc

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