Online Mendelian Inheritance in Man - STICKLER SYNDROME, TYPE I - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/108300 http://purl.bioontology.org/ontology/OMIM/108300
Preferred Name	STICKLER SYNDROME, TYPE I
Synonyms	AOM ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE STICKLER SYNDROME, VITREOUS TYPE 1 STL1 STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AOM ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE STICKLER SYNDROME, VITREOUS TYPE 1 STL1 STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE
prefLabel	STICKLER SYNDROME, TYPE I
Gene Symbol	COL2A1
notation	108300
Scope Statement	Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0005) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU019413 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU001370 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU019416 http://purl.bioontology.org/ontology/OMIM/MTHU004641 http://purl.bioontology.org/ontology/OMIM/MTHU001151 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000265 http://purl.bioontology.org/ontology/OMIM/MTHU004634 http://purl.bioontology.org/ontology/OMIM/MTHU019414 http://purl.bioontology.org/ontology/OMIM/MTHU004635 http://purl.bioontology.org/ontology/OMIM/MTHU012515 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU019415 http://purl.bioontology.org/ontology/OMIM/MTHU007296 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU019417 http://purl.bioontology.org/ontology/OMIM/MTHU004640 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	12q13.11-q13.2
tui	T047
cui	C2020284

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