Online Mendelian Inheritance in Man - MULTIPLE SYNOSTOSES SYNDROME 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/186500 http://purl.bioontology.org/ontology/OMIM/186500
Preferred Name	MULTIPLE SYNOSTOSES SYNDROME 1
Synonyms	SYMPHALANGISM-BRACHYDACTYLY SYNDROME WL SYNDROME FACIOAUDIOSYMPHALANGISM SYNDROME SYNS1 SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SYMPHALANGISM-BRACHYDACTYLY SYNDROME WL SYNDROME FACIOAUDIOSYMPHALANGISM SYNDROME SYNS1 SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN See more See less
prefLabel	MULTIPLE SYNOSTOSES SYNDROME 1
Gene Symbol	SYM1 NOG SYNS1A
Scope Statement	Waddling gait [MISCELLANEOUS] Caused by mutation in the noggin gene (NOG, 602991.0003) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU015391 http://purl.bioontology.org/ontology/OMIM/MTHU001779 http://purl.bioontology.org/ontology/OMIM/MTHU015379 http://purl.bioontology.org/ontology/OMIM/MTHU015371 http://purl.bioontology.org/ontology/OMIM/MTHU015376 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU015383 http://purl.bioontology.org/ontology/OMIM/MTHU015370 http://purl.bioontology.org/ontology/OMIM/MTHU015384 http://purl.bioontology.org/ontology/OMIM/MTHU015389 http://purl.bioontology.org/ontology/OMIM/MTHU015396 http://purl.bioontology.org/ontology/OMIM/MTHU015395 http://purl.bioontology.org/ontology/OMIM/MTHU015388 http://purl.bioontology.org/ontology/OMIM/MTHU015393 http://purl.bioontology.org/ontology/OMIM/MTHU015386 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU015378 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU005629 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU011858 http://purl.bioontology.org/ontology/OMIM/MTHU000602 http://purl.bioontology.org/ontology/OMIM/MTHU015374 http://purl.bioontology.org/ontology/OMIM/MTHU015381 http://purl.bioontology.org/ontology/OMIM/MTHU006237 http://purl.bioontology.org/ontology/OMIM/MTHU005340 http://purl.bioontology.org/ontology/OMIM/MTHU015385 http://purl.bioontology.org/ontology/OMIM/MTHU036841 http://purl.bioontology.org/ontology/OMIM/MTHU007328 http://purl.bioontology.org/ontology/OMIM/MTHU008315 http://purl.bioontology.org/ontology/OMIM/MTHU015387 http://purl.bioontology.org/ontology/OMIM/MTHU015382 http://purl.bioontology.org/ontology/OMIM/MTHU015375 http://purl.bioontology.org/ontology/OMIM/MTHU002110 http://purl.bioontology.org/ontology/OMIM/MTHU015394 http://purl.bioontology.org/ontology/OMIM/MTHU015377 http://purl.bioontology.org/ontology/OMIM/MTHU015380 http://purl.bioontology.org/ontology/OMIM/MTHU015390 http://purl.bioontology.org/ontology/OMIM/MTHU015392 See more See less
tui	T047
Gene Locus	17q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	186500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4551826 C0342282
OMIM Entry Type	3
OMIM MimType Value	pound

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