Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

FOXC1-related anterior segment dysgenesis
Synonyms
Definitions

Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene. The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the 2 entities (anterior segment dysgenesis 3 and Axenfeld-Rieger syndrome 3) into FOXC1-related anterior segment dysgenesis based on consistent molecular mechanism (loss of function) and mode of inheritance (autosomal dominant), while the phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities.
ID

http://purl.obolibrary.org/obo/MONDO_0100235
comment

The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the 2 entities (anterior segment dysgenesis 3 and Axenfeld-Rieger syndrome 3) into FOXC1-related anterior segment dysgenesis based on consistent molecular mechanism (loss of function) and mode of inheritance (autosomal dominant), while the phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities.
created_by

http://orcid.org/0000-0001-5208-3432
definition

Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.

The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the 2 entities (anterior segment dysgenesis 3 and Axenfeld-Rieger syndrome 3) into FOXC1-related anterior segment dysgenesis based on consistent molecular mechanism (loss of function) and mode of inheritance (autosomal dominant), while the phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities.
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5789
label

FOXC1-related anterior segment dysgenesis
prefixIRI

MONDO:0100235
prefLabel

FOXC1-related anterior segment dysgenesis
textual definition

Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0011119
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