Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

STICKLER SYNDROME, TYPE I
Synonyms

ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE
ID

http://purl.bioontology.org/ontology/OMIM/108300
altLabel

ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE

STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE

STL1

AOM

STICKLER SYNDROME, VITREOUS TYPE 1
cui

C2020284
Gene Locus

12q13.11-q13.2
Gene Symbol

COL2A1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU019414

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU012515

http://purl.bioontology.org/ontology/OMIM/MTHU019416

http://purl.bioontology.org/ontology/OMIM/MTHU004635

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU000607

http://purl.bioontology.org/ontology/OMIM/MTHU007296

http://purl.bioontology.org/ontology/OMIM/MTHU004640

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU026801

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU019415

http://purl.bioontology.org/ontology/OMIM/MTHU019413

http://purl.bioontology.org/ontology/OMIM/MTHU019417

http://purl.bioontology.org/ontology/OMIM/MTHU004634

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU004641

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU001151
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

108300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

STICKLER SYNDROME, TYPE I
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537492 Medical Subject Headings CUI