Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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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