Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
Synonyms	DRRD
ID	http://purl.bioontology.org/ontology/OMIM/609508
altLabel	DRRD RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR STICKLER SYNDROME, ATYPICAL
cui	C1836081 C1836080
Gene Locus	12q13.11-q13.2
Gene Symbol	COL2A1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU054503 http://purl.bioontology.org/ontology/OMIM/MTHU054504 http://purl.bioontology.org/ontology/OMIM/MTHU054502 http://purl.bioontology.org/ontology/OMIM/MTHU054501
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609508
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C563709	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C563709	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/MESH/C563710	Medical Subject Headings	CUI