Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

GLAUCOMA 3, PRIMARY CONGENITAL, A
Synonyms

BUPHTHALMOS
ID

http://purl.bioontology.org/ontology/OMIM/231300
altLabel

BUPHTHALMOS

GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET

GLC3A

GLC3

GLAUCOMA, CONGENITAL

GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
cui

C1856439

C3278152

C3278153

C0020302
Gene Locus

2p22-p21
Gene Symbol

CYP1B1

GLC3A

ASGD6
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU012748

http://purl.bioontology.org/ontology/OMIM/MTHU012746

http://purl.bioontology.org/ontology/OMIM/MTHU028036

http://purl.bioontology.org/ontology/OMIM/MTHU001096

http://purl.bioontology.org/ontology/OMIM/MTHU012749

http://purl.bioontology.org/ontology/OMIM/MTHU012750

http://purl.bioontology.org/ontology/OMIM/MTHU012747
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

231500
notation

231300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GLAUCOMA 3, PRIMARY CONGENITAL, A
tui

T019

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q15.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/Q15.0 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/C565547 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C565547 Medical Subject Headings LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q15.0 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D006871 Medical Subject Headings CUI