Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/184460 http://purl.bioontology.org/ontology/OMIM/184460
Preferred Name	STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
Synonyms	ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM TEUNISSEN-CREMERS SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM TEUNISSEN-CREMERS SYNDROME
prefLabel	STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
Gene Symbol	SYM1 NOG SYNS1A
Scope Statement	Caused by mutation in the noggin gene (NOG, 602991.0013) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007696 http://purl.bioontology.org/ontology/OMIM/MTHU015376 http://purl.bioontology.org/ontology/OMIM/MTHU036505 http://purl.bioontology.org/ontology/OMIM/MTHU013945 http://purl.bioontology.org/ontology/OMIM/MTHU007333 http://purl.bioontology.org/ontology/OMIM/MTHU006883 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU003479 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU010787 http://purl.bioontology.org/ontology/OMIM/MTHU015492 http://purl.bioontology.org/ontology/OMIM/MTHU015493 http://purl.bioontology.org/ontology/OMIM/MTHU002110 See more See less
tui	T047
Gene Locus	17q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	184460
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1866656
OMIM Entry Type	3
OMIM MimType Value	pound

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