Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/611276 http://purl.bioontology.org/ontology/OMIM/611276
Preferred Name	GLAUCOMA 1, OPEN ANGLE, H
Synonyms	GLC1H
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GLC1H
prefLabel	GLAUCOMA 1, OPEN ANGLE, H
Gene Symbol	GLC1H FBNL ARCL1D DHRD EFEMP1
Scope Statement	Caused by mutation in the EGF-containing fibulin-like extracellular matrix protein-1 gene (EFEMP1, 601548.0002) [MOLECULAR BASIS] Onset ranges from age 3 years to after age 40 [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU078285 http://purl.bioontology.org/ontology/OMIM/MTHU078284 http://purl.bioontology.org/ontology/OMIM/MTHU037111 http://purl.bioontology.org/ontology/OMIM/MTHU042979
tui	T047
Gene Locus	2p16
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	611276
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1969811
OMIM Entry Type	3
OMIM MimType Value	pound

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